Disease Gene Chromosomal region Accession No.
DISEASE | GENE | CHROMOSOMAL REGION (LOCUS) | ACCESSION NO. | % IN | MUTATIONS |
HEARING DISORDERS (DEAFNESS) | | | | | |
Autosomal recessive Non-syndromic hearing impairment (ARNSHI) | DFNB65 | 20q13.2-q13.32. | 692219 | | |
Non-syndromic recessive deafness | TRIOBP/DFNB28 | 22q13.1 | 11078 | | |
Autosomal recessive Non-syndromic deafness | TMPRSS3/DFNB8-10 | 21q22.3 | 64699 | 1.8% | |
Non-syndromic hearing loss (NSHL) sensorineural hearing loss | GJB2 /DFNB1 (Cx26) (connexin 26) | 13q11-12 | 4481752 | | W24X, W77X, Q124X |
Autosomal recessive non-syndromic hearing impairment | DFNB38 | 6q26-q27 | 337991 | | |
Congenital deafness | DFNB37(MYO6) (Myosin 6) | 6q13 | 4646 | | |
Usher syndrome (USH) | USH1C/ DFNB18 | 11p15.1 | 10083 | | 15 mutations |
Usher syndrome type 1F and Non-syndromic recessive deafness | PCDH15/DFNB23 | 10q21-22 | 65217 | | R3X and IVS27-2A>G A transition mutation (G262D, exon 8) |
Autosomal recessive non-syndromic deafness (pre lingual-non progressive) | DFNB35 | 14q24.1-14q24.3 | 246148 | | |
Severe hearing loss in a patient with Smith-Magenis syndrome | MYO15A/DFNB13 | 17p11.2 | 51168 | | |
Autosomal recessive, non-syndromal sensorineural hearing loss | DFNB20 | 11q25-qter | 1713 | | |
Non-syndromal, autosomal recessive, sensorineural hearing loss | DFNB16/STRC | 15q15-22. | | | |
GJB2/DFNB1 (Cx26) | 13q11-12 | 2706 | 27 families | GJB6 (Cx30) | |
Non-syndromic recessive deafness | DFNB7/11 TMC1 | 9q13-21 | 117531 | | |
Autosomal recessive nonsyndromic deafness (postlingual-progresseive) | DFNB8 DFNB13 | 7q34-q36 | 1705 | | |
Autosomal recessive nonsyndromic deafness | TRIOBP-6 DFNB28 | 22q13.1 | 11078 | | Q297X, R788X, R1068X, R1117X, D1069fsX1082, R1078fsX1083 |
Novel association of hypertrophic cardiomyopathy, sensorineural deafness, and a mutation in unconventional myosin VI | MYO6 | 6q13 | 4646 | | |
PHOTO-RECEPTORSDISORDERS | | | | | |
Hereditary conereceptor disorder | CNGA-1 | chromosome 2q11. | 71143140 | | F547L |
Autosomal dominant Retinitis Pigmentosa(arRP) | RP30 | 1p13.3-p21.2(10.5 cM /8.9 Mbp region) | | | |
Autosomal dominant Retinitis Pigmentosa(arRP) | RP25 | chr 6q15 | 8414 | | |
Autosomal recessive RP | RP29 | chr 4q32-q34 | 54110 | | |
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arRP | RP1 | 8q11 | 6101 | | c.4703delA c.5400delA |
Autosomal recessive complete achromatopsia | CNGA3 | chromosome 2q11.2 | 1261 | | F547L |
Leber congenital amaurosis, autosomal recessive(LCA) | LCA9/ AIPL1 | 1p36/17p13.2 | 619483 /23746 | | Trp 278X |
Rrecessively inherited degeneration of the retinal pigment epithelium | RBP4 | 10q23.33 | 5950 | | |
arRP | | chr 1q | | | |
CORD(Cone-rod retinal dystrophy) | CORD8 | 1q23.1-q23.3 | | | |
Variant form of Oguchi disease | GRK1 | 13q34 | 6011 | | |
ANEMIC DISORDERS | | | | | |
HBB | HBB, Human | | 28302128 | | |
Beta thalassemia | | | | 5.6% punjab | IVSI-5 (G-C) (37.3%), Fr 8-9 (+G) (25.9%), Cd126-131 deletion IVS-II-848 (C-->A), IVS-I-1 (G-->T) |
db-thalassemia | | | | | |
Hereditary aplastic anemia | Trisomy 8 | | | 22.5% | 22q-, t(14;22) and t(15;21) |
Hereditary spherocytosis | 4.2gene(EPB42) | 15q15-q21 | 2038 | | CD47 |
COAGULATION DISORDERS | | | | | |
Factor X deficiency | Factor X | chromosome 13q34 | 2159 | 3.5% ( | CRM+, CRM-, CRMred |
Factor FXIII | | | | | Val316Phe Gly262Glu |
Genetic deficiency of FVIII - classic hemophilia (hemophilia A) | F5F8D | chromosome 18q | | LMAN1 (ERGIC-53) MCFD2 | |
Familial thrombophilia antithrombin 111 (AT III) deficiency | | | | 6.2% | |
hereditary thrombophilia | | | | 2.3% for protein C deficiency, 1.4% for protein S deficiency, 1.5% for antithrombin III deficiency, 14.2% for factor V leiden mutation and 2.0% for homocystenemia | |
Thromboembolism(Hereditary deficiency of Antithrombin III) | ATIII | 1q23-q25.1 | 462 | 4.6% | |
Thrombophillia in thromboembolism | factor V gene (factor V Leiden) | 1q23 | 2153 | 10-60% cases of thromboembolism | R506Q |
METABOLIC DISORDERS | | | | | |
Hereditary congenital hyperammonemias | | | | | |
Hereditary diabetes (Type II) | (ENPP1)PC-1 K121Q | exon 4 | 5167 | | |
X-linked Red cell glucose-6-phosphate dehydrogenase (G6PD) | | X chromosome | | | 563 (the Mediterranean mutation) |
CARDIOVASCULAR DISEASES: | | | | | |
Cardiovascular disorders (Hypoalphalipoproteinemia) | ABCA1 gene | R219 allele and L825 allele | 19 | | R219K and V825L polymorphisms |
OTHERS | | | | | |
Spondyloepimetaphyseal dysplasia (SEMD) | | | | 16 individuals | |
MORM syndrome (mental retardation, truncal obesity, retinal dystrophy and micropenis) | BBS8 gene | 9q34.3 | | 14 individuals | |
Hereditary congenital facial palsy (HCFP) | HCFP1, PODXL2, PLEXIN-D1, GATA-2, and TMCC1 | 3q21.2–q22.1 | 7880 50512 2624 23023 | | |
Autosomal recessive hereditary hypotrichosis | | 18q21.1 | | | |
Autosomal recessive Alopecia with mental retardation syndrome | | 3q26.33-q27.3 | | | |
Keratoconus | | chromosomes 16q and 20q | | | |
Rheumatoid arthritis | HLA-DR genes HLA-DRB1(3AHVR),HLA-DR4,HLA-DR5,HLA-DR10,HLA-DR15,HLA- | 6p21.3 | 3126 3127 | | |
Hereditary spastic paraparesis with distal muscle wasting, microcephaly, mental retardation, arachnodactyly and tremors | | | | 4patients | |
Autosomal recessive Micro syndrome | | | | 3 children | |
Congenital adrenal hyper plasia | | | | | |
Hereditary Hemochromatosis | | | | | |