S.NO	Uniprot ID	Protein Name	Sequence Length	Cadherin Repeats region	Disease
1	P22223	Cadherin-3	829	DOMAIN 108 215 Cadherin 1 DOMAIN 216 328 Cadherin 2 DOMAIN 329 440 Cadherin 3 DOMAIN 441 546 Cadherin 4 DOMAIN 547 650 Cadherin 5	"DISEASE: Hypotrichosis congenital with juvenile macular dystrophy (HJMD) [MIM:601553]: A disorder characterized by congenital hypotrichosis, early hair loss, and severe degenerative changes of the retinal macula that culminate in blindness during the second to third decade of life. Note=The disease is caused by mutations affecting the gene represented in this entry. ; DISEASE: Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome (EEMS) [MIM:225280]: A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. It is an autosomal recessive condition characterized by features of ectodermal dysplasia such as sparse eyebrows and scalp hair, and selective tooth agenesis associated with macular dystrophy and ectrodactyly. Note=The disease is caused by mutations affecting the gene represented in this entry".
2	Q14574	Desmocollin-3	896	DOMAIN 136 243 Cadherin 1 DOMAIN 244 355 Cadherin 2 DOMAIN 356 471 Cadherin 3 DOMAIN 472 579 Cadherin 4 DOMAIN 580 690 Cadherin 5	"DISEASE: Hypotrichosis and recurrent skin vesicles (HRSV) [MIM:613102]: A disorder characterized by hypotrichosis and the appearance of recurrent skin vesicle formation. Affected individuals show sparse and fragile hair on scalp, as well as absent eyebrows and eyelashes. Vesicles filled with thin, watery fluid are observed on the scalp and skin of most of the body. Mucosal vesicles are absent. Note=The disease is caused by mutations affecting the gene represented in this entry".
3	Q02487	Desmocollin-2	901	DOMAIN 136 243 Cadherin 1 DOMAIN 244 355 Cadherin 2 DOMAIN 356 471 Cadherin 3 DOMAIN 472 579 Cadherin 4 DOMAIN 580 694 Cadherin 5	"DISEASE: Arrhythmogenic right ventricular dysplasia, familial, 11 (ARVD11) [MIM:610476]: A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias. Note=The disease is caused by mutations affecting the gene represented in this entry".
4	P12830	Cadherin-1	882	DOMAIN 155 262 Cadherin 1 DOMAIN 263 375 Cadherin 2 DOMAIN 376 486 Cadherin 3 DOMAIN 487 593 Cadherin 4 DOMAIN 594 697 Cadherin 5	"DISEASE: Hereditary diffuse gastric cancer (HDGC) [MIM:137215]: A cancer predisposition syndrome with increased susceptibility to diffuse gastric cancer. Diffuse gastric cancer is a malignant disease characterized by poorly differentiated infiltrating lesions resulting in thickening of the stomach. Malignant tumors start in the stomach, can spread to the esophagus or the small intestine, and can extend through the stomach wall to nearby lymph nodes and organs. It also can metastasize to other parts of the body. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. Heterozygous CDH1 germline mutations are responsible for familial cases of diffuse gastric cancer. Somatic mutations has also been found in patients with sporadic diffuse gastric cancer and lobular breast cancer. ; DISEASE: Endometrial cancer (ENDMC) [MIM:608089]: A malignancy of endometrium, the mucous lining of the uterus. Most endometrial cancers are adenocarcinomas, cancers that begin in cells that make and release mucus and other fluids. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. ; DISEASE: Ovarian cancer (OC) [MIM:167000]: The term ovarian cancer defines malignancies originating from ovarian tissue. Although many histologic types of ovarian tumors have been described, epithelial ovarian carcinoma is the most common form. Ovarian cancers are often asymptomatic and the recognized signs and symptoms, even of late-stage disease, are vague. Consequently, most patients are diagnosed with advanced disease. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. ; DISEASE: Breast cancer, lobular (LBC) [MIM:137215]: A type of breast cancer that begins in the milk-producing glands (lobules) of the breast. Note=The gene represented in this entry may be involved in disease pathogenesis. ; DISEASE: Blepharocheilodontic syndrome 1 (BCDS1) [MIM:119580]: A form of blepharocheilodontic syndrome, a rare autosomal dominant disorder. It is characterized by lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and features of ectodermal dysplasia, including hair anomalies, conical teeth and tooth agenesis. An additional rare manifestation is imperforate anus. There is considerable phenotypic variability among affected individuals. Note=The disease is caused by mutations affecting the gene represented in this entry".
5	Q8TAB3	Protocadherin-19	1148	DOMAIN 22 129 Cadherin 1 DOMAIN 130 238 Cadherin 2 DOMAIN 239 346 Cadherin 3 DOMAIN 350 453 Cadherin 4 DOMAIN 454 563 Cadherin 5 DOMAIN 569 672 Cadherin 6	"DISEASE: Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088]: A condition characterized by seizure with onset in infancy or early childhood, cognitive impairment, and delayed development of variable severity in some patients. Additional features include autistic signs and psychosis. The disorder is sex-limited, with the phenotype being restricted to females. Note=The disease is caused by mutations affecting the gene represented in this entry".
6	Q6ZTQ4	Cadherin-related family member 3	885	DOMAIN 23 132 Cadherin 1 DOMAIN 136 236 Cadherin 2 DOMAIN 237 344 Cadherin 3 DOMAIN 346 466 Cadherin 4 DOMAIN 462 566 Cadherin 5 DOMAIN 567 695 Cadherin 6	DISEASE: Note=Asthma susceptibility may be associated with variations affecting the gene represented in this entry in early childhood asthma with severe exacerbations occurring between 2 and 6 years of age.
7	Q9NYQ6	Cadherin EGF LAG seven-pass G-type receptor 1	3014	DOMAIN 246 353 Cadherin 1 DOMAIN 354 459 Cadherin 2 DOMAIN 460 565 Cadherin 3 DOMAIN 566 687 Cadherin 4 DOMAIN 688 789 Cadherin 5 DOMAIN 790 892 Cadherin 6 DOMAIN 893 999 Cadherin 7 DOMAIN 1000 1101 Cadherin 8 DOMAIN 1106 1224 Cadherin 9	"DISEASE: Neural tube defects (NTD) [MIM:182940]: Congenital malformations of the central nervous system and adjacent structures related to defective neural tube closure during the first trimester of pregnancy. Failure of neural tube closure can occur at any level of the embryonic axis. Common NTD forms include anencephaly, myelomeningocele and spina bifida, which result from the failure of fusion in the cranial and spinal region of the neural tube. NTDs have a multifactorial etiology encompassing both genetic and environmental components. Note=The disease may be caused by mutations affecting the gene represented in this entry".
8	Q9NPG4	Protocadherin-12	1184	DOMAIN 28 135 Cadherin 1 DOMAIN 136 244 Cadherin 2 DOMAIN 245 352 Cadherin 3 DOMAIN 355 460 Cadherin 4 DOMAIN 461 565 Cadherin 5 DOMAIN 600 711 Cadherin 6	"DISEASE: Microcephaly, seizures, spasticity, and brain calcifications (MISSBC) [MIM:251280]: An autosomal recessive syndrome characterized by congenital microcephaly, hypothalamic midbrain dysplasia, epilepsy, and severe global developmental delay with profound intellectual disability, spasticity or dystonia. Brain imaging shows intracerebral calcifications. Note=The disease is caused by mutations affecting the gene represented in this entry".
9	Q9H251	Cadherin-23	3354	DOMAIN 34 132 Cadherin 1 DOMAIN 133 236 Cadherin 2 DOMAIN 237 348 Cadherin 3 DOMAIN 349 460 Cadherin 4 DOMAIN 461 561 Cadherin 5 DOMAIN 562 671 Cadherin 6 DOMAIN 672 784 Cadherin 7 DOMAIN 779 890 Cadherin 8 DOMAIN 891 995 Cadherin 9 DOMAIN 996 1102 Cadherin 10 DOMAIN 1103 1208 Cadherin 11 DOMAIN 1210 1313 Cadherin 12 DOMAIN 1314 1418 Cadherin 13 DOMAIN 1420 1527 Cadherin 14 DOMAIN 1529 1634 Cadherin 15 DOMAIN 1635 1744 Cadherin 16 DOMAIN 1745 1851 Cadherin 17 DOMAIN 1852 1959 Cadherin 18 DOMAIN 1960 2069 Cadherin 19 DOMAIN 2070 2174 Cadherin 20 DOMAIN 2175 2293 Cadherin 21 DOMAIN 2297 2402 Cadherin 22 DOMAIN 2403 2509 Cadherin 23 DOMAIN 2510 2611 Cadherin 24 DOMAIN 2614 2722 Cadherin 25 DOMAIN 2729 2846 Cadherin 26 DOMAIN 2847 2975 Cadherin 27	"DISEASE: Usher syndrome 1D (USH1D) [MIM:601067]: USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness. Note=The disease is caused by mutations affecting the gene represented in this entry. ; DISEASE: Usher syndrome 1D/F (USH1DF) [MIM:601067]: USH1DF patients are heterozygous for mutations in CDH23 and PCDH15, indicating a digenic inheritance pattern. Note=The disease is caused by mutations affecting distinct genetic loci, including the gene represented in this entry. ; DISEASE: Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. Note=The disease is caused by mutations affecting the gene represented in this entry. ; DISEASE: Pituitary adenoma 5, multiple types (PITA5) [MIM:617540]: A form of pituitary adenoma, a neoplasm of the pituitary gland and one of the most common neuroendocrine tumors. Pituitary adenomas are clinically classified as functional and non-functional tumors, and manifest with a variety of features, including local invasion of surrounding structures and excessive hormone secretion. Functional pituitary adenomas are further classified by the type of hormone they secrete: growth hormone (GH)-secreting, prolactin (PRL)-secreting, adrenocorticotropin (ACTH)-secreting, thyroid-stimulating hormone (TSH)-secreting, and plurihormonal (GH and TSH) tumors. Familial and sporadic forms have been reported. The transmission pattern of familial PITA5 is consistent with autosomal dominant inheritance with reduced penetrance. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry".
10	Q9NYQ8	Protocadherin Fat 2	4349	DOMAIN 34 148 Cadherin 1 DOMAIN 149 256 Cadherin 2 DOMAIN 363 458 Cadherin 3 DOMAIN 459 564 Cadherin 4 DOMAIN 565 669 Cadherin 5 DOMAIN 716 820 Cadherin 6 DOMAIN 821 925 Cadherin 7 DOMAIN 926 1032 Cadherin 8 DOMAIN 1033 1137 Cadherin 9 DOMAIN 1138 1242 Cadherin 10 DOMAIN 1243 1346 Cadherin 11 DOMAIN 1350 1448 Cadherin 12 DOMAIN 1449 1555 Cadherin 13 DOMAIN 1556 1660 Cadherin 14 DOMAIN 1661 1758 Cadherin 15 DOMAIN 1759 1872 Cadherin 16 DOMAIN 1969 2070 Cadherin 17 DOMAIN 2071 2171 Cadherin 18 DOMAIN 2172 2272 Cadherin 19 DOMAIN 2273 2379 Cadherin 20 DOMAIN 2380 2481 Cadherin 21 DOMAIN 2482 2585 Cadherin 22 DOMAIN 2586 2691 Cadherin 23 DOMAIN 2692 2797 Cadherin 24 DOMAIN 2798 2906 Cadherin 25 DOMAIN 2907 3011 Cadherin 26 DOMAIN 3012 3113 Cadherin 27 DOMAIN 3114 3218 Cadherin 28 DOMAIN 3219 3321 Cadherin 29 DOMAIN 3322 3426 Cadherin 30 DOMAIN 3427 3531 Cadherin 31 DOMAIN 3532 3642 Cadherin 32	"DISEASE: Spinocerebellar ataxia 45 (SCA45) [MIM:617769]: A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA45 is a slowly progressive, autosomal dominant form with onset in adulthood. Note=The disease may be caused by mutations affecting the gene represented in this entry".
11	Q96JP9	Cadherin-related family member 1	859	DOMAIN 36 135 Cadherin 1 DOMAIN 136 246 Cadherin 2 DOMAIN 247 353 Cadherin 3 DOMAIN 359 472 Cadherin 4 DOMAIN 473 576 Cadherin 5 DOMAIN 573 688 Cadherin 6	"DISEASE: Cone-rod dystrophy 15 (CORD15) [MIM:613660]: An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors. Note=The disease is caused by mutations affecting the gene represented in this entry".
12	Q96QU1	Protocadherin-15	1955	DOMAIN 40 147 Cadherin 1 DOMAIN 148 265 Cadherin 2 DOMAIN 278 395 Cadherin 3 DOMAIN 396 509 Cadherin 4 DOMAIN 510 616 Cadherin 5 DOMAIN 617 717 Cadherin 6 DOMAIN 719 819 Cadherin 7 DOMAIN 820 926 Cadherin 8 DOMAIN 927 1035 Cadherin 9 DOMAIN 1037 1144 Cadherin 10 DOMAIN 1145 1259 Cadherin 11	"DISEASE: Usher syndrome 1F (USH1F) [MIM:602083]: USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness. Note=The disease is caused by mutations affecting the gene represented in this entry. ; DISEASE: Usher syndrome 1D/F (USH1DF) [MIM:601067]: USH1DF patients are heterozygous for mutations in CDH23 and PCDH15, indicating a digenic inheritance pattern. Note=The disease is caused by mutations affecting distinct genetic loci, including the gene represented in this entry. ; DISEASE: Deafness, autosomal recessive, 23 (DFNB23) [MIM:609533]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. Note=The disease is caused by mutations affecting the gene represented in this entry".
13	Q6V0I7	Protocadherin Fat 4	4981	DOMAIN 43 135 Cadherin 1 DOMAIN 136 250 Cadherin 2 DOMAIN 251 353 Cadherin 3 DOMAIN 359 475 Cadherin 4 DOMAIN 476 582 Cadherin 5 DOMAIN 584 689 Cadherin 6 DOMAIN 690 793 Cadherin 7 DOMAIN 794 893 Cadherin 8 DOMAIN 894 996 Cadherin 9 DOMAIN 997 1100 Cadherin 10 DOMAIN 1101 1210 Cadherin 11 DOMAIN 1211 1315 Cadherin 12 DOMAIN 1316 1420 Cadherin 13 DOMAIN 1421 1529 Cadherin 14 DOMAIN 1529 1629 Cadherin 15 DOMAIN 1630 1740 Cadherin 16 DOMAIN 1741 1841 Cadherin 17 DOMAIN 1842 1944 Cadherin 18 DOMAIN 1945 2051 Cadherin 19 DOMAIN 2051 2154 Cadherin 20 DOMAIN 2155 2259 Cadherin 21 DOMAIN 2260 2364 Cadherin 22 DOMAIN 2365 2466 Cadherin 23 DOMAIN 2467 2567 Cadherin 24 DOMAIN 2568 2669 Cadherin 25 DOMAIN 2670 2773 Cadherin 26 DOMAIN 2773 2872 Cadherin 27 DOMAIN 2873 2983 Cadherin 28 DOMAIN 2984 3089 Cadherin 29 DOMAIN 3090 3194 Cadherin 30 DOMAIN 3195 3298 Cadherin 31 DOMAIN 3299 3404 Cadherin 32 DOMAIN 3405 3510 Cadherin 33 DOMAIN 3509 3620 Cadherin 34	"DISEASE: Van Maldergem syndrome 2 (VMLDS2) [MIM:615546]: An autosomal recessive disorder characterized by intellectual disability, typical craniofacial features, auditory malformations resulting in hearing loss, and skeletal and limb malformations. Some patients have renal hypoplasia. Brain MRI typically shows periventricular nodular heterotopia. Note=The disease is caused by mutations affecting the gene represented in this entry. ; DISEASE: Hennekam lymphangiectasia-lymphedema syndrome 2 (HKLLS2) [MIM:616006]: A form of Hennekam lymphangiectasia-lymphedema syndrome, a generalized lymph-vessels dysplasia characterized by intestinal lymphangiectasia with severe lymphedema of the limbs, genitalia and face. In addition, affected individuals have unusual facies and severe mental retardation. HKLLS2 individuals have lymphangiectasia variably affecting the gut, pericardium, lungs, kidneys, and genitalia. Other features include camptodactyly and rare syndactyly. Note=The disease is caused by mutations affecting the gene represented in this entry".
14	Q96JQ0	Protocadherin-16	3298	DOMAIN 43 143 Cadherin 1 DOMAIN 144 255 Cadherin 2 DOMAIN 256 362 Cadherin 3 DOMAIN 367 472 Cadherin 4 DOMAIN 474 578 Cadherin 5 DOMAIN 579 685 Cadherin 6 DOMAIN 686 790 Cadherin 7 DOMAIN 791 894 Cadherin 8 DOMAIN 895 1000 Cadherin 9 DOMAIN 1001 1111 Cadherin 10 DOMAIN 1112 1211 Cadherin 11 DOMAIN 1218 1324 Cadherin 12 DOMAIN 1333 1436 Cadherin 13 DOMAIN 1437 1546 Cadherin 14 DOMAIN 1547 1649 Cadherin 15 DOMAIN 1650 1751 Cadherin 16 DOMAIN 1752 1855 Cadherin 17 DOMAIN 1856 1960 Cadherin 18 DOMAIN 1965 2068 Cadherin 19 DOMAIN 2069 2171 Cadherin 20 DOMAIN 2172 2277 Cadherin 21 DOMAIN 2278 2376 Cadherin 22 DOMAIN 2377 2482 Cadherin 23 DOMAIN 2483 2602 Cadherin 24 DOMAIN 2603 2706 Cadherin 25 DOMAIN 2707 2813 Cadherin 26 DOMAIN 2814 2933 Cadherin 27	"DISEASE: Van Maldergem syndrome 1 (VMLDS1) [MIM:601390]: An autosomal recessive disorder characterized by intellectual disability, typical craniofacial features, auditory malformations resulting in hearing loss, and skeletal and limb malformations. Some patients have renal hypoplasia. Brain MRI typically shows periventricular nodular heterotopia. Note=The disease is caused by mutations affecting the gene represented in this entry. ; DISEASE: Mitral valve prolapse 2 (MVP2) [MIM:607829]: A form of mitral valve prolapse, a valvular hearth disease characterized by abnormally elongated and thickened mitral valve leaflets, that typically show myxomatous degeneration with increased leaflet compliance. It is associated with mitral regurgitation. Myxomatous mitral valves have an abnormal layered architecture characterized by loose collagen in fibrosa, expanded spongiosa strongly positive for proteoglycans, and disrupted elastin in atrialis. In classic mitral valve prolapse, leaflets are at least 5 mm thick, whereas in the non-classic form, they are less than 5 mm thick. Severe classic mitral valve prolapse is strongly associated with arrhythmias, endocarditis, heart failure, and need for valve surgery. Note=The disease is caused by mutations affecting the gene represented in this entry".
15	Q86SJ6	Desmoglein-4	1040	DOMAIN 50 157 Cadherin 1 DOMAIN 158 269 Cadherin 2 DOMAIN 270 385 Cadherin 3 DOMAIN 386 497 Cadherin 4	"DISEASE: Hypotrichosis 6 (HYPT6) [MIM:607903]: A condition characterized by the presence of less than the normal amount of hair and abnormal hair follicles and shafts, which are thin and atrophic. The disorder affects the trunk and extremities as well as the scalp, and the eyebrows and eyelashes may also be involved, whereas beard, pubic, and axillary hairs are largely spared. In addition, patients can develop hyperkeratotic follicular papules, erythema, and pruritus in affected areas. In some patients with congenital hypotrichosis, monilethrix-like hairs showing elliptical nodes have been observed. Note=The disease is caused by mutations affecting the gene represented in this entry. ; DISEASE: Note=Autoantibodies against DSG4 are found in patients with pemphigus vulgaris. Pemphigus vulgaris is a potentially lethal skin disease in which epidermal blisters occur as the result of the loss of cell-cell adhesion".
16	Q02413	Desmoglein-1	1049	DOMAIN 50 158 Cadherin 1 DOMAIN 159 270 Cadherin 2 DOMAIN 271 385 Cadherin 3 DOMAIN 386 497 Cadherin 4	"DISEASE: Palmoplantar keratoderma 1, striate, focal, or diffuse (PPKS1) [MIM:148700]: A dermatological disorder characterized by thickening of the skin on the palms and soles, and longitudinal hyperkeratotic lesions on the palms, running the length of each finger. Note=The disease is caused by mutations affecting the gene represented in this entry. ; DISEASE: Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE (EPKHE) [MIM:615508]: A syndrome characterized by severe dermatitis, multiple allergies and metabolic wasting. Clinical features include erythroderma, yellowish papules and plaques arranged at the periphery of the palms, along the fingers and over weight-bearing areas of the feet, skin erosions and scaling, and hypotrichosis. Additionally, patients manifest severe food allergies, elevated immunoglobulin E (IgE) levels and recurrent infections with marked metabolic wasting. Note=The disease is caused by mutations affecting the gene represented in this entry".
17	Q14126	Desmoglein-2	1118	DOMAIN 50 160 Cadherin 1 DOMAIN 161 273 Cadherin 2 DOMAIN 274 388 Cadherin 3 DOMAIN 389 503 Cadherin 4	"DISEASE: Arrhythmogenic right ventricular dysplasia, familial, 10 (ARVD10) [MIM:610193]: A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias. Note=The disease is caused by mutations affecting the gene represented in this entry. ; DISEASE: Cardiomyopathy, dilated 1BB (CMD1BB) [MIM:612877]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry".
18	P55287	Cadherin-11	796	DOMAIN 54 159 Cadherin 1 DOMAIN 160 268 Cadherin 2 DOMAIN 269 383 Cadherin 3 DOMAIN 384 486 Cadherin 4 DOMAIN 487 612 Cadherin 5	"DISEASE: Note=A chromosomal aberration involving CDH11 is a common genetic feature of aneurysmal bone cyst, a benign osseous neoplasm. Translocation t(16;17)(q22;p13) with USP6. The translocation generates a fusion gene in which the strong CDH11 promoter is fused to the entire USP6 coding sequence, resulting in USP6 transcriptional up-regulation. ; DISEASE: Elsahy-Waters syndrome (ESWS) [MIM:211380]: An autosomal recessive syndrome characterized by moderate mental retardation, hypospadias and characteristic craniofacial morphology, which includes brachycephaly, facial asymmetry, exotropia, hypertelorism, telechantus, broad nose, concave nasal ridge, underdeveloped mid-face, prognathism, and radicular dentin dysplasia. Note=The disease is caused by mutations affecting the gene represented in this entry".
19	Q9BZA8	Protocadherin-11 Y-linked	1340	DOMAIN 58 171 Cadherin 1 DOMAIN 172 281 Cadherin 2 DOMAIN 282 387 Cadherin 3 DOMAIN 394 498 Cadherin 4 DOMAIN 499 602 Cadherin 5 DOMAIN 603 705 Cadherin 6 DOMAIN 709 827 Cadherin 7	"DISEASE: Note=A chromosomal aberration involving PCDH11Y is a cause of multiple congenital abnormalities, including severe bilateral vesicoureteral reflux (VUR) with ureterovesical junction defects. Translocation t(Y;3)(p11;p12) with ROBO2".
20	P55291	Cadherin-15	814	DOMAIN 61 152 Cadherin 1 DOMAIN 153 260 Cadherin 2 DOMAIN 261 375 Cadherin 3 DOMAIN 376 481 Cadherin 4 DOMAIN 482 590 Cadherin 5	"DISEASE: Note=A chromosomal aberration involving CDH15 and KIRREL3 is found in a patient with severe mental retardation and dysmorphic facial features. Translocation t(11;16)(q24. 2;q24). ; DISEASE: Mental retardation, autosomal dominant 3 (MRD3) [MIM:612580]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Note=The disease is caused by mutations affecting the gene represented in this entry".

The 20 Cadherin Repeats and their disease