| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Dowling-Degos disease 1 |
Likely pathogenic; Pathogenic |
rs2498407244, rs58751565, rs61348424, rs61297109 |
RCV003225775 RCV000015753 RCV000015762 RCV003333731 |
| Epidermolysis bullosa |
Pathogenic; Likely pathogenic |
rs58766676, rs56729325 |
RCV001823714 RCV005234961 |
| Epidermolysis bullosa simplex |
Likely pathogenic; Pathogenic |
rs1938615785, rs1938635857, rs1938645889, rs1938666838, rs1938667202, rs376462752, rs57599352, rs60586163, rs57499817, rs121912475, rs61126080, rs59115483, rs59190510, rs1565593355, rs267607458, rs59243757, rs62642056, rs267607456, rs267607457, rs59840738, rs57142010 View all (6 more) |
RCV001352784 RCV001352779 RCV001352778 RCV001352777 RCV001352775 RCV001352724 RCV001352783 RCV001352776 RCV001352721 RCV001352726 RCV001352788 RCV001352723 RCV001352787 RCV000761247 RCV001352781 RCV001352782 RCV001352785 RCV001352722 RCV001352725 RCV001352774 RCV005250007 RCV001352780 |
| Epidermolysis bullosa simplex 1A, generalized severe |
Likely pathogenic; Pathogenic |
rs1938679596, rs60715293, rs59190510, rs56922686, rs60586163 |
RCV001808117 RCV000015756 RCV000020296 RCV002247452 RCV002247453 |
| Epidermolysis bullosa simplex 1C, localized |
Pathogenic |
rs58058996, rs59190510, rs61297109 |
RCV001813990 RCV000988857 RCV000503703 |
| Epidermolysis bullosa simplex 2A, generalized severe |
Pathogenic |
rs886039403, rs61348633, rs57890479, rs59190510 |
RCV001731190 RCV001731187 RCV001731188 RCV001731189 RCV001811191 |
| Epidermolysis bullosa simplex 2B, generalized intermediate |
Likely pathogenic; Pathogenic |
rs2498519756, rs57599352, rs58163069, rs121912474, rs121912475, rs57348201, rs59190510, rs56922686, rs59840738 |
RCV002281636 RCV001731290 RCV001731294 RCV001731296 RCV001731298 RCV001731299 RCV005867789 RCV004786330 RCV004786331 |
| Epidermolysis bullosa simplex 2C, localized |
Pathogenic |
rs58058996, rs58072617, rs59730172, rs60586163, rs59115483, rs57187183 |
RCV001731291 RCV001731292 RCV001731293 RCV001731295 RCV001731300 RCV002284185 |
| EPIDERMOLYSIS BULLOSA SIMPLEX 2D, GENERALIZED INTERMEDIATE, AUTOSOMAL RECESSIVE |
Pathogenic |
rs763608512 |
RCV001733890 |
| EPIDERMOLYSIS BULLOSA SIMPLEX 2D, GENERALIZED SEVERE, AUTOSOMAL RECESSIVE |
Pathogenic; Likely pathogenic |
rs2120471876, rs1565593355 |
RCV001733891 RCV001759447 |
| Epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive |
Likely pathogenic |
rs59115483 |
RCV003328115 |
| Epidermolysis bullosa simplex with migratory circinate erythema |
Pathogenic |
rs2120468389, rs2120475630, rs2120468268, rs61126080 |
RCV001823944 RCV001823945 RCV001823946 RCV000015761 |
| Epidermolysis bullosa simplex with mottled pigmentation |
Pathogenic; Likely pathogenic |
rs57499817, rs61126080, rs59190510, rs59092197 |
RCV000015754 RCV001814959 RCV001270733 RCV003152677 |
| Epidermolysis bullosa simplex, Koebner type |
Pathogenic; Likely pathogenic |
rs58072617, rs1555156076 |
RCV001197083 RCV000505555 |
| KRT5-related disorder |
Likely pathogenic; Pathogenic |
rs1555156480, rs58058996, rs58072617, rs57499817, rs61126080, rs59115483, rs59190510, rs60720877, rs58107458, rs56729325 |
RCV003404584 RCV003914846 RCV003894805 RCV003415710 RCV003894806 RCV003894807 RCV004752716 RCV004730868 RCV003398646 RCV003894912 |
|
| Disease Name |
Relationship Type |
References |
| AA amyloidosis |
Associate |
23234252, 32861330 |
| Achalasia Addisonianism Alacrimia syndrome |
Associate |
22431556 |
| Adenocarcinoma |
Associate |
20068475, 22623086, 31880186, 35093316 |
| Adenocarcinoma Mucinous |
Associate |
21699710 |
| Adenocarcinoma of Lung |
Associate |
25337222, 31854219, 32360590 |
| Adenolymphoma |
Associate |
22990554 |
| Adenoma |
Associate |
22623086 |
| Adenomatoid Tumor |
Associate |
19543245 |
| Aicardi Syndrome |
Associate |
21577319 |
| Airway Obstruction |
Associate |
19529775 |
| Allergic Fungal Sinusitis |
Associate |
32977822 |
| Ameloblastoma |
Associate |
28390135 |
| Amyloidosis |
Associate |
23234252 |
| Anal Gland Neoplasms |
Associate |
17683193 |
| Angina Unstable |
Associate |
35437049 |
| Blister |
Associate |
25961909, 32927888, 34643242, 35247839, 7534039, 9804357 |
| Bohring syndrome |
Associate |
30613307 |
| Breast Neoplasms |
Associate |
12429812, 16941011, 17263897, 18275599, 18536655, 18752049, 19434314, 19855377, 20104967, 20482762, 20492711, 20665103, 20818337, 21427063, 21596841, 21914172, 22751729, 22791584, 23082819, 23184698, 23702728, 24008056, 24427357, 24937677, 25005788, 25012653, 25742793, 25999348, 26137966, 26248960, 26339367, 28470571, 28692043, 29553968, 29884220, 31307407, 34055036, 35255911, 35639459 View all (24 more) |
| Breast Neoplasms |
Stimulate |
15990899 |
| Cap Myopathy |
Associate |
26090004 |
| Carcinoma |
Associate |
28528398 |
| Carcinoma Basal Cell |
Associate |
1383350, 18752048, 19578363, 29135512, 31047981, 33893132, 37752769 |
| Carcinoma in Situ |
Associate |
33650041 |
| Carcinoma Intraductal Noninfiltrating |
Associate |
21118480, 23778411, 26397772, 27116088, 32467291 |
| Carcinoma Mucoepidermoid |
Associate |
29434341 |
| Carcinoma Non Small Cell Lung |
Associate |
20068475, 24244672, 30914778, 32965722, 34714841 |
| Carcinoma Ovarian Epithelial |
Associate |
26495758 |
| Carcinoma Pancreatic Ductal |
Associate |
36459568 |
| Carcinoma Papillary |
Associate |
21076459, 29785016 |
| Carcinoma Renal Cell |
Associate |
27031776 |
| Carcinoma Renal Cell |
Inhibit |
35417384 |
| Carcinoma Signet Ring Cell |
Associate |
23573317 |
| Carcinoma Squamous Cell |
Stimulate |
12946229, 26124082 |
| Carcinoma Squamous Cell |
Associate |
1379783, 16415794, 17348440, 19578363, 20855955, 22748473, 24327102, 28099906, 28528398, 30484070, 31752667, 31880186, 32170368, 32843061, 32977822, 35093316, 36776865 View all (2 more) |
| Carcinoma Squamous Cell |
Inhibit |
27399691 |
| Carcinoma Transitional Cell |
Associate |
1689541 |
| Cardiomyopathy infantile histiocytoid |
Associate |
19843013 |
| Cell Transformation Neoplastic |
Associate |
28692043 |
| Clear cell metastatic renal cell carcinoma |
Associate |
15608393 |
| Cysts |
Associate |
22990554 |
| Death |
Stimulate |
21801876 |
| Death |
Associate |
28632777 |
| Dermatitis Atopic |
Associate |
30787169 |
| Diabetes Mellitus |
Inhibit |
28403359 |
| Diabetes Mellitus |
Associate |
31615341 |
| Disease |
Associate |
24372084 |
| Dowling Degos Disease |
Associate |
16465624, 16917491, 24372084, 25157627 |
| Dyskinesias |
Associate |
33225657 |
| Dysplastic Nevus Syndrome |
Associate |
33225657 |
| Ectodermal Dysplasia |
Associate |
24143938 |
| Ectodermal Dysplasia Skin Fragility Syndrome |
Associate |
11407989, 34680898, 35247839, 9036937 |
| Endometrial Neoplasms |
Associate |
18567994 |
| Eosinophilic Esophagitis |
Stimulate |
28104354 |
| Epidermolysis Bullosa |
Associate |
1977802, 36578049, 38368142 |
| Epidermolysis Bullosa Simplex |
Associate |
10383750, 10733662, 11407988, 11407989, 11710919, 11973334, 12648226, 12925204, 15102078, 15647384, 15982306, 16098032, 16417221, 17039244, 21490615, 22747925, 23894602, 24964947, 25961909, 26432462, 28561874, 29080682, 29932457, 30382914, 30933721, 34046686, 34643242, 34680898, 35247839, 38368142, 7534039, 7537780, 7688477, 8601736, 8799157, 9036937, 9406827, 9740251, 9804355, 9804357, 9989794 View all (26 more) |
| Epidermolysis Bullosa Simplex with Migratory Circinate Erythema |
Associate |
16417221, 24104543 |
| Epidermolysis bullosa simplex with mottled pigmentation |
Associate |
15982306, 9129237 |
| Epidermolysis bullosa with pyloric atresia |
Associate |
30933721 |
| Erythema |
Associate |
12925204 |
| Fever |
Associate |
30909744 |
| Fibrosis |
Associate |
35608953 |
| Fibrosis |
Stimulate |
37230801 |
| Food Hypersensitivity |
Associate |
30787169 |
| Fragile X Syndrome |
Associate |
7534039 |
| Genetic Diseases Inborn |
Associate |
11973334 |
| Glucose Galactose Malabsorption |
Associate |
25633990 |
| Hearing Loss Bilateral |
Associate |
24427357 |
| Hepatitis B |
Associate |
24148581, 27472239 |
| Hereditary Breast and Ovarian Cancer Syndrome |
Associate |
21076459 |
| Hyperkeratosis Epidermolytic |
Associate |
12648226 |
| Hyperplasia |
Associate |
21702904 |
| Ichthyosis |
Associate |
9036937 |
| Idiopathic Pulmonary Fibrosis |
Stimulate |
27423691 |
| Idiopathic Pulmonary Fibrosis |
Associate |
35608953, 35681516, 37230801, 37758700 |
| Inflammation |
Associate |
38065913 |
| Lichenoid Eruptions |
Associate |
15764042 |
| Lown Ganong Levine Syndrome |
Associate |
24148581 |
| Lung Diseases |
Associate |
37758700 |
| Lung Diseases Interstitial |
Associate |
33859634 |
| Lung Neoplasms |
Associate |
31854219, 31880186 |
| Lymphatic Metastasis |
Inhibit |
21396129 |
| Lymphatic Metastasis |
Associate |
23359191, 25724181, 35255911 |
| Lymphoma Non Hodgkin |
Associate |
34184816 |
| Macules hereditary congenital hypopigmented and hyperpigmented |
Associate |
24964947 |
| Melanoma |
Associate |
19578363, 33441834, 35054979 |
| Mesothelioma |
Associate |
12194995, 15608393, 16056246, 16415794, 16554731, 18567994, 23041828 |
| Mesothelioma Malignant |
Associate |
12194995, 28922567, 36557076 |
| Mesothelioma Malignant |
Stimulate |
25400801 |
| Mouth Diseases |
Associate |
33225657 |
| Mouth Neoplasms |
Associate |
35673812 |
| Myopathy Central Core |
Stimulate |
24632568 |
| Nasopharyngeal Carcinoma |
Associate |
32382038 |
| Necrosis |
Associate |
38065913 |
| Neoplasm Invasiveness |
Stimulate |
16941011 |
| Neoplasm Invasiveness |
Associate |
18536655, 29475913, 30380731 |
| Neoplasm Metastasis |
Associate |
21427063, 30380731, 35054979, 35639459, 38065913 |
| Neoplasms |
Associate |
11455036, 12429812, 1378696, 15990899, 16050957, 16341146, 17263897, 17650314, 17726467, 18275599, 19130459, 19995430, 20665103, 21427063, 21801876, 22751729, 23411939, 25550837, 25742793, 25887482, 26993476, 28291122, 28548128, 28946910, 29237908, 29434341, 29739401, 29879069, 30359996, 31307407, 32729301, 33441834, 34184816, 34697907, 34997561, 36017196, 37313920, 39513266 View all (23 more) |
| Neoplasms Basal Cell |
Associate |
24143938 |
| Neoplasms Cystic Mucinous and Serous |
Associate |
16056246, 18567994 |
| Neoplasms Glandular and Epithelial |
Associate |
23264211 |
| Neoplasms Mesothelial |
Associate |
15608393, 25337222 |
| Neoplasms Squamous Cell |
Associate |
23827819, 32360590 |
| Neoplastic Syndromes Hereditary |
Associate |
32283594 |
| Non Muscle Invasive Bladder Neoplasms |
Associate |
29323757, 30380731, 31469885, 31500577, 33050010, 34184816, 34697907, 34707176, 37389960 |
| Non Muscle Invasive Bladder Neoplasms |
Inhibit |
35563543 |
| Odontoma |
Associate |
28390135 |
| Otitis Media |
Associate |
22623086 |
| Ovarian Neoplasms |
Associate |
28147318 |
| Pancreatic Neoplasms |
Associate |
36788090 |
| Papilloma |
Associate |
21076459 |
| Patel Bixler syndrome |
Associate |
11407989 |
| Periapical Diseases |
Associate |
23264211 |
| Personality Disorders |
Stimulate |
33435173 |
| Pigmentation Disorders |
Associate |
15982306, 16417221, 19578363, 24964947 |
| Pleural Effusion |
Associate |
25337222 |
| Prostatic Intraepithelial Neoplasia |
Associate |
9033282 |
| Prostatic Neoplasms |
Associate |
38065913 |
| Prostatic Neoplasms Castration Resistant |
Stimulate |
21365123 |
| Prostatitis |
Associate |
38065913 |
| Pulmonary Disease Chronic Obstructive |
Stimulate |
38286613 |
| Pulmonary Fibrosis |
Associate |
37758700 |
| Respiratory Tract Infections |
Associate |
28632777, 30699951 |
| Retinal Dysplasia |
Associate |
33225657 |
| Rupture |
Associate |
34643242 |
| Salivary Duct Calculi |
Associate |
30390196 |
| Sarcoma |
Associate |
12946229 |
| Sclerosis |
Associate |
25989286 |
| Sinonasal undifferentiated carcinoma |
Associate |
24832165 |
| Skin Diseases Vesiculobullous |
Associate |
15647384 |
| Squamous Cell Carcinoma of Head and Neck |
Associate |
28528398, 32468250 |
| Squamous Intraepithelial Lesions |
Associate |
36476167 |
| Status Asthmaticus |
Associate |
29843677 |
| Stuttering |
Associate |
11973334 |
| Tertiary Lymphoid Structures |
Associate |
20818337 |
| Tertiary Lymphoid Structures |
Inhibit |
35639459 |
| Triple Negative Breast Neoplasms |
Associate |
21496280, 21693047, 22638807, 22828374, 23392436, 23443971, 24390667, 24632568, 25179840, 25887482, 26930401, 26968553, 28294120, 28470571, 29475913, 29725243, 29884220, 30335837, 33753865, 36870308, 37012444 View all (6 more) |
| Triple Negative Breast Neoplasms |
Inhibit |
23082819 |
| Triple Negative Breast Neoplasms |
Stimulate |
25966200 |
| Urethral Neoplasms |
Associate |
23827819, 29249035, 29587848, 30699951 |
| Urinary Bladder Diseases |
Associate |
35563543 |
| Urinary Bladder Neoplasms |
Associate |
12778082, 29242529, 29587848, 29941343, 32546765, 33435173 |
| Urologic Neoplasms |
Associate |
28632777, 35563543 |
| Uterine Cervical Dysplasia |
Associate |
27399691 |
| Uterine Cervical Neoplasms |
Associate |
1379783, 32843061 |
| Wounds and Injuries |
Associate |
35247839 |
| X Linked Combined Immunodeficiency Diseases |
Associate |
1378696 |
|