Entry Search - 127550 179835 187270 224230 268130 300126 305000 602322 604212 604319 606470 606471 606478 608833 609377 612199 612661 613128 613129 613987 613988 613989 613990 615190 616353 616381 616553 617341 617868 618674 619767 620365 - OMIM
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Search: '127550 179835 187270 224230 268130 300126 305000 602322 604212 604319 606470 606471 606478 608833 609377 612199 612661 613128 613129 613987 613988 613989 613990 615190 616353 616381 616553 617341 617868 618674 619767 620365 (Search in: MIM number)'
Results: 32 entries.
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1:
* 187270. TELOMERASE REVERSE TRANSCRIPTASE; TERT
Cytogenetic location: 5p15.33, Genomic coordinates (GRCh38): 5:1,253,167-1,295,068
Matching terms: 187270
 Gene-Phenotype Relationships   Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
5p15.33 {Leukemia, acute myeloid} 601626 AD, SMu 3
{Melanoma, cutaneous malignant, 9} 615134 AD 3
Dyskeratosis congenita, autosomal dominant 2 613989 AD, AR 3
Dyskeratosis congenita, autosomal recessive 4 613989 AD, AR 3
Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 1 614742 AD 3

2:
* 300126. DYSKERIN; DKC1
Cytogenetic location: Xq28, Genomic coordinates (GRCh38): X:154,762,864-154,777,689
Matching terms: 300126
 Gene-Phenotype Relationships   ICD+   Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
Xq28 ?Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1 301108 XLD 3
Dyskeratosis congenita, X-linked 305000 XLR 3
ICD+
SNOMEDCT: 708536001

3:
* 608833. REGULATOR OF TELOMERE ELONGATION HELICASE 1; RTEL1
Cytogenetic location: 20q13.33, Genomic coordinates (GRCh38): 20:63,657,810-63,696,253
Matching terms: 608833
 Gene-Phenotype Relationships   Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
20q13.33 Dyskeratosis congenita, autosomal dominant 4 615190 AD, AR 3
Dyskeratosis congenita, autosomal recessive 5 615190 AD, AR 3
Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 3 616373 AD 3

4:
* 613128. STN1, CST COMPLEX SUBUNIT; STN1
Cytogenetic location: 10q24.33, Genomic coordinates (GRCh38): 10:103,877,569-103,918,184
Matching terms: 613128
 Gene-Phenotype Relationships   Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
10q24.33 Cerebroretinal microangiopathy with calcifications and cysts 2 617341 AR 3

5:
* 613129. CONSERVED TELOMERE MAINTENANCE COMPONENT 1; CTC1
Cytogenetic location: 17p13.1, Genomic coordinates (GRCh38): 17:8,224,815-8,248,056
Matching terms: 613129
 Gene-Phenotype Relationships   Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
17p13.1 Cerebroretinal microangiopathy with calcifications and cysts 612199 AR 3

6:
# 613987. DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2; DKCB2
Cytogenetic location: 5q35.3
Matching terms: 613987
 Phenotype-Gene Relationships   Phenotypic Series   ICD+   Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
Gene/Locus Gene/Locus
MIM number
5q35.3 Dyskeratosis congenita, autosomal recessive 2 613987 AR 3 NHP2 606470
ICD+
ORPHA: 1775
DO: 0070017

7:
# 613988. DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3; DKCB3
Cytogenetic location: 17p13.1
Matching terms: 613988
 Phenotype-Gene Relationships   Phenotypic Series   ICD+   Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
Gene/Locus Gene/Locus
MIM number
17p13.1 Dyskeratosis congenita, autosomal recessive 3 613988 AR 3 WRAP53 612661
ICD+
ORPHA: 1775
DO: 0070019

8:
# 613989. DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2; DKCA2
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4, INCLUDED; DKCB4, INCLUDED
Cytogenetic locations: 5p15.33,
Matching terms: 613989
 Phenotype-Gene Relationships   Phenotypic Series   ICD+   Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
Gene/Locus Gene/Locus
MIM number
5p15.33 Dyskeratosis congenita, autosomal recessive 4 613989 AD, AR 3 TERT 187270
5p15.33 Dyskeratosis congenita, autosomal dominant 2 613989 AD, AR 3 TERT 187270
ICD+
ORPHA: 1775, 3322
DO: 0070016

9:
# 613990. DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3; DKCA3
Cytogenetic location: 14q12
Matching terms: 613990
 Phenotype-Gene Relationships   Phenotypic Series   ICD+   Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
Gene/Locus Gene/Locus
MIM number
14q12 Dyskeratosis congenita, autosomal dominant 3 613990 AD 3 TINF2 604319
ICD+
ORPHA: 1775, 3322
DO: 0070018

10:
# 612199. CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1; CRMCC1
Cytogenetic location: 17p13.1
Matching terms: 612199
 Phenotype-Gene Relationships   Phenotypic Series   ICD+   Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
Gene/Locus Gene/Locus
MIM number
17p13.1 Cerebroretinal microangiopathy with calcifications and cysts 612199 AR 3 CTC1 613129
ICD+
SNOMEDCT: 711482008
ORPHA: 313838

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Search: 127550 179835 187270 224230 268130 300126 305000 602322 604212 604319 606470 606471 606478 608833 609377 612199 612661 613128 613129 613987 613988 613989 613990 615190 616353 616381 616553 617341 617868 618674 619767 620365 (Search in: MIM number)
Results: 32 entries.

1:
* 187270. TELOMERASE REVERSE TRANSCRIPTASE; TERT
Cytogenetic location: 5p15.33, Genomic coordinates (GRCh38): 5:1,253,167-1,295,068
Matching terms: 187270

2:
* 300126. DYSKERIN; DKC1
Cytogenetic location: Xq28, Genomic coordinates (GRCh38): X:154,762,864-154,777,689
Matching terms: 300126

3:
* 608833. REGULATOR OF TELOMERE ELONGATION HELICASE 1; RTEL1
Cytogenetic location: 20q13.33, Genomic coordinates (GRCh38): 20:63,657,810-63,696,253
Matching terms: 608833

4:
* 613128. STN1, CST COMPLEX SUBUNIT; STN1
Cytogenetic location: 10q24.33, Genomic coordinates (GRCh38): 10:103,877,569-103,918,184
Matching terms: 613128

5:
* 613129. CONSERVED TELOMERE MAINTENANCE COMPONENT 1; CTC1
Cytogenetic location: 17p13.1, Genomic coordinates (GRCh38): 17:8,224,815-8,248,056
Matching terms: 613129

6:
# 613987. DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2; DKCB2
Cytogenetic location: 5q35.3
Matching terms: 613987

7:
# 613988. DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3; DKCB3
Cytogenetic location: 17p13.1
Matching terms: 613988

8:
# 613989. DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2; DKCA2
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4, INCLUDED; DKCB4, INCLUDED
Cytogenetic locations: 5p15.33,
Matching terms: 613989

9:
# 613990. DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3; DKCA3
Cytogenetic location: 14q12
Matching terms: 613990

10:
# 612199. CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1; CRMCC1
Cytogenetic location: 17p13.1
Matching terms: 612199