| S.NO | Uniprot ID | Protein Name | Sequence Length | RRM Repeats region | Disease |
| 1 | Q13148 | TAR DNA-binding protein 43 | 414 | "DISEASE: Amyotrophic lateral sclerosis 10 (ALS10) [MIM:612069]: A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. Note=The disease is caused by mutations affecting the gene represented in this entry". | |
| 2 | P55795 | Heterogeneous nuclear ribonucleoprotein H2 | 449 | "DISEASE: Mental retardation, X-linked, syndromic, Bain type (MRXSB) [MIM:300986]: A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXSB patients manifest developmental delay, intellectual disability, autism, hypotonia, seizures, and dysmorphic facial features. Only females are affected. Note=The disease is caused by mutations affecting the gene represented in this entry". | |
| 3 | Q9UHX1 | Poly(U)-binding-splicing factor PUF60 | 559 | "DISEASE: Verheij syndrome (VRJS) [MIM:615583]: A syndrome characterized by growth retardation, delayed psychomotor development, dysmorphic facial features, and skeletal, mainly vertebral, abnormalities. Additional variable features may include coloboma, renal defects, and cardiac defects. Note=The disease is caused by mutations affecting the gene represented in this entry". | |
| 4 | P98175 | RNA-binding protein 10 | 930 | "DISEASE: TARP syndrome (TARPS) [MIM:311900]: A disorder characterized by the Robin sequence (micrognathia, glossoptosis and cleft palate), talipes equinovarus and cardiac defects. Note=The disease is caused by mutations affecting the gene represented in this entry". | |
| 5 | Q15427 | Splicing factor 3B subunit 4 | 424 | "DISEASE: Acrofacial dysostosis 1, Nager type (AFD1) [MIM:154400]: A form of acrofacial dysostosis, a group of disorders which are characterized by malformation of the craniofacial skeleton and the limbs. The major facial features of AFD1 include downslanted palpebral fissures, midface retrusion, and micrognathia, the latter of which often requires the placement of a tracheostomy in early childhood. Limb defects typically involve the anterior (radial) elements of the upper limbs and manifest as small or absent thumbs, triphalangeal thumbs, radial hyoplasia or aplasia, and radioulnar synostosis. Phocomelia of the upper limbs and, occasionally, lower-limb defects have also been reported. Note=The disease is caused by mutations affecting the gene represented in this entry". | |
| 6 | P09651 | Heterogeneous nuclear ribonucleoprotein A1 | 372 | "DISEASE: Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 (IBMPFD3) [MIM:615424]: An autosomal dominant disease characterized by disabling muscle weakness clinically resembling to limb girdle muscular dystrophy, osteolytic bone lesions consistent with Paget disease, and premature frontotemporal dementia. Clinical features show incomplete penetrance. Note=The disease is caused by mutations affecting the gene represented in this entry. ; DISEASE: Amyotrophic lateral sclerosis 20 (ALS20) [MIM:615426]: A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. Note=The disease is caused by mutations affecting the gene represented in this entry". | |
| 7 | O14979 | Heterogeneous nuclear ribonucleoprotein D-like | 420 | "DISEASE: Limb-girdle muscular dystrophy 1G (LGMD1G) [MIM:609115]: An autosomal dominant degenerative myopathy characterized by slowly progressive wasting and weakness of the proximal muscles of arms and legs around the pelvic or shoulder girdles, elevated creatine kinase levels and dystrophic features on muscle biopsy. LGMD1G is characterized by a mild late-onset and is associated with progressive fingers and toes flexion limitation. Affected individuals may also develop cataracts before age 50. Note=The disease is caused by mutations affecting the gene represented in this entry". | |
| 8 | Q96T37 | RNA-binding protein 15 | 977 | "DISEASE: Note=A chromosomal aberration involving RBM15 may be a cause of acute megakaryoblastic leukemia. Translocation t(1;22)(p13;q13) with MKL1. Although both reciprocal fusion transcripts are detected in acute megakaryoblastic leukemia (AMKL, FAB-M7), the RBM15-MKL1 chimeric protein has all the putative functional domains encoded by each gene and is the candidate oncogene". | |
| 9 | P22626 | Heterogeneous nuclear ribonucleoproteins A2/B1 | 353 | "DISEASE: Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 (IBMPFD2) [MIM:615422]: An autosomal dominant disease characterized by disabling muscle weakness clinically resembling to limb girdle muscular dystrophy, osteolytic bone lesions consistent with Paget disease, and premature frontotemporal dementia. Clinical features show incomplete penetrance. Note=The disease is caused by mutations affecting the gene represented in this entry". | |
| 10 | Q96DH6 | RNA-binding protein Musashi homolog 2 | 328 | DISEASE: Note=Chromosomal aberrations involving MSI2 may contribute to disease progression in chronic myeloid leukemia. Translocation t(7;17)(p15;q23) with HOXA9; translocation t(7;17)(q32-34;q23). | |
| 11 | Q6NXG1 | Epithelial splicing regulatory protein 1 | 681 | "DISEASE: Deafness, autosomal recessive, 109 (DFNB109) [MIM:618013]: A form of non-syndromic, sensorineural deafness characterized by bilateral, congenital, severe to profound 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. DFNB109 affected individuals additionally exhibit vestibular dysplasia, although they do not manifest problems with balance or movement. Note=The disease is caused by mutations affecting the gene represented in this entry". | |
| 12 | P23246 | "Splicing factor, proline- and glutamine-rich " | 707 | DISEASE: Note=A chromosomal aberration involving SFPQ may be a cause of papillary renal cell carcinoma (PRCC). Translocation t(X;1)(p11. 2;p34) with TFE3. | |
| 13 | Q9NTZ6 | RNA-binding protein 12 | 932 | "DISEASE: Schizophrenia 19 (SCZD19) [MIM:617629]: A complex, multifactorial psychotic disorder or group of disorders characterized by disturbances in the form and content of thought (e. g. delusions, hallucinations), in mood (e. g. inappropriate affect), in sense of self and relationship to the external world (e. g. loss of ego boundaries, withdrawal), and in behavior (e. g bizarre or apparently purposeless behavior). Although it affects emotions, it is distinguished from mood disorders in which such disturbances are primary. Similarly, there may be mild impairment of cognitive function, and it is distinguished from the dementias in which disturbed cognitive function is considered primary. Some patients manifest schizophrenic as well as bipolar disorder symptoms and are often given the diagnosis of schizoaffective disorder. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry". | |
| 14 | P43243 | Matrin-3 | 847 | "DISEASE: Amyotrophic lateral sclerosis 21 (ALS21) [MIM:606070]: A neurodegenerative disorder affecting upper and lower motor neurons, resulting in muscle weakness and respiratory failure. Some patients may develop myopathic features or dementia. Note=The disease is caused by mutations affecting the gene represented in this entry". | |
| 15 | Q9NW13 | RNA-binding protein 28 | 759 | "DISEASE: Alopecia, neurologic defects, and endocrinopathy syndrome (ANES) [MIM:612079]: Affected individuals have hair loss of variable severity, ranging from complete alopecia to near-normal scalp hair with absence of body hair. All have moderate to severe mental retardation, progressive motor deterioration and central hypogonadotropic hypogonadism with delayed or absent puberty and central adrenal insufficiency. Additional features included short stature, microcephaly, gynecomastia, pigmentary anomalies, hypodontia, kyphoscoliosis, ulnar deviation of the hands, and loss of subcutaneous fat. Note=The disease is caused by mutations affecting the gene represented in this entry". | |
| 16 | Q86SG3 | Deleted in azoospermia protein 4 | 579 | "DISEASE: Spermatogenic failure Y-linked 2 (SPGFY2) [MIM:415000]: A disorder resulting in the absence (azoospermia) or reduction (oligozoospermia) of sperm in the semen, leading to male infertility. Note=The disease may be caused by mutations affecting the gene represented in this entry. AZFc deletions in the Yq11. 23 region including the DAZ genes are the most common known genetic cause of human male infertility". | |
| 17 | Q9NQZ3 | Deleted in azoospermia protein 1 | 744 | "DISEASE: Spermatogenic failure Y-linked 2 (SPGFY2) [MIM:415000]: A disorder resulting in the absence (azoospermia) or reduction (oligozoospermia) of sperm in the semen, leading to male infertility. Note=The disease may be caused by mutations affecting the gene represented in this entry. AZFc deletions in the Yq11. 23 region including the DAZ genes are the most common known genetic cause of human male infertility". | |
| 18 | P31483 | Nucleolysin TIA-1 isoform p40 | 386 | "DISEASE: Welander distal myopathy (WDM) [MIM:604454]: An autosomal dominant disorder characterized by adult onset of distal muscle weakness predominantly affecting the distal long extensors of the hands, with slow progression to involve all small hand muscles and the lower legs. Skeletal muscle biopsy shows myopathic changes and prominent rimmed vacuoles. Rare homozygous patients showed earlier onset, faster progression, and proximal muscle involvement. Note=The disease is caused by mutations affecting the gene represented in this entry". | |
| 19 | Q15233 | Non-POU domain-containing octamer-binding protein | 471 | "DISEASE: Note=A chromosomal aberration involving NONO may be a cause of papillary renal cell carcinoma (PRCC). Translocation t(X;X)(p11. 2;q13. 1) with TFE3. ; DISEASE: Mental retardation, X-linked, syndromic, 34 (MRXS34) [MIM:300967]: A mental retardation syndrome characterized by intellectual deficit, delayed psychomotor development, poor speech, and dysmorphic features. Mental retardation is defined 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". | |