H-InvDB x AHG DB
DiseaseInfo Viewer
H-InvDB_8.3 released on March 26, 2013.
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DiseaseInfo Viewer : HIX0056157

TranscriptsHIT000073660
HIT000075730
HIT000075731
HIT000260024
UCSC Genome browserchrX:151903228-151909518
G-integrachrX:151903228-151909518
Map positionXq28

SymbolCSAG1
OMIMNA
Disease nameNA
MutationView-

Orphan diseases co-localized with HIX0056157

The number of co-localized H-Inv loci was computed by converting each cytogenetic band into a physical range on the chromosome, with additional 1000000 bp added on each side.

  Symbol OMIM phenotype Entrez Gene GenAtlas Cytogenetic band
(Link to the latest human genome on UCSC Genome Browser)
Number-of co-localized H-Inv loci (Click for list) Description Source
1 CVD1 314400 8262 28970 Xq28 272 cardiac valvular dysplasia-1 OMIM
2 MRX64 - 4427 34232 Xq28 272 mental retardation, X-linked 64 GenAtlas
3 MRX72 300271 23695 34160 Xq28 272 mental retardation, X-linked 72 OMIM
4 MRXS19 - - 20723 Xq28 272 mental retardation,X-linked,syndromic,with mild facial dysmorphism,tapering finger,abnormal tonus,seizures GenAtlas
5 MRXS23 - - 27603 Xq28 272 mental retardation,X-linked,syndromic,with short stature,small hands and feet,seizures,cleft palate and glaucoma GenAtlas
6 MRXSA 300261 57791 - Xq28 272 Armfield X-linked mental retardation syndrome OMIM
7 MYP1 310460 4657 21314 Xq28 272 myopia 1 (X-linked) OMIM
8 RP34 300605 777642 - Xq28 272 retinitis pigmentosa 34 (X-linked recessive) OMIM
9 TKCR 314300 7085 20484 Xq28 272 torticollis, keloids, cryptorchidism and renal dysplasia OMIM
10 XM 314900 7506 - Xq28 272 Xm(a) antigen OMIM
11 EBM 302000 1881 21532 Xq273-qter 317 epidermolysis bullosa, macular type OMIM
12 MRX25 - 4389 20618 Xq273-q28 317 mental retardation,X-linked 25,severe,with heterozygote manifestation,in the same interval than MRX3,MRX16,MRX28 but not mutated in GDI1 GenAtlas
13 ODPF 300244 54114 33742 Xq273-q28 317 Osseous dysplasia, digital, with facial pigmentary defects and multiple frenula OMIM
14 WSN 311510 7489 21256 Xq273-qter 317 Waisman syndrome OMIM
15 ANOP1 301590 289 21516 Xq27-q28 365 anophthalmos 1 (with mental retardation, without limb anomalies or dental or urogenital abnormalities) OMIM
16 HPCX 300147 9566 30318 Xq27-q28 365 hereditary prostate cancer, X-linked OMIM
17 MAFD2 309200 4096 20410 Xq27-q28 365 major affective disorder 2 OMIM
18 MRSD 309620 4364 20420 Xq27-q28 365 mental retardation-skeletal dysplasia OMIM
19 INDX 300076 8259 - Xq26-qter 549 Immunoneurologic syndrome X-linked, of Wood, Black, and Norbury OMIM
20 CND 304730 8231 34045 Xq24-qter 700 Corneal dermoids OMIM
21 CND - 8231 34045 Xq24-qter 700 corneal desmoids,benign tumors,congenital,bilateral and central corneal opacification at birth,X-linked recessive,histologically characterized by a combination of ectodermal and mesodermal elements,requirring early surgical intervention to prevent irrever GenAtlas
22 AIH3 301201 201 - Xq22-q28 982 amelogenesis imperfecta 3, hypomaturation or hypoplastic type OMIM
23 MGR2 300125 8249 28720 Xq 1384 Migraine, familial typical, susceptibility to OMIM
24 CGF1 300082 1083 29125 Xp1122-qter 1604 cognitive function 1, social OMIM
25 MRX74 - 23693 34235 X 2261 mental retardation, X-linked 74 GenAtlas
26 MRX77 - 93991 34237 X 2261 mental retardation, X-linked 77 GenAtlas

This database and viewer were originally developed by Dr. Boris Lenhard at Karolinska Institute.

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