Entry Search - 113705 133520 179617 227645 227646 227650 300514 300515 600185 600375 600901 602774 602956 603467 604094 605724 605882 607139 608111 609053 609054 609644 610355 610538 610832 611301 611360 613278 613390 613897 613899 613951 613976 613984 614082 614083 614087 614151 615272 616435 617243 617244 617247 617784 617883 - OMIM
View Results as: Gene Map Table   Clinical Synopsis  

Search: '113705 133520 179617 227645 227646 227650 300514 300515 600185 600375 600901 602774 602956 603467 604094 605724 605882 607139 608111 609053 609054 609644 610355 610538 610832 611301 611360 613278 613390 613897 613899 613951 613976 613984 614082 614083 614087 614151 615272 616435 617243 617244 617247 617784 617883 (Search in: MIM number)'
Results: 45 entries.
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1:
* 113705. BRCA1 DNA REPAIR-ASSOCIATED PROTEIN; BRCA1
Cytogenetic location: 17q21.31, Genomic coordinates (GRCh38): 17:43,044,295-43,170,327
Matching terms: 113705
► Gene-Phenotype Relationships  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
17q21.31 {Breast-ovarian cancer, familial, 1} 604370 AD, Mu 3
{Pancreatic cancer, susceptibility to, 4} 614320 3
Fanconi anemia, complementation group S 617883 AR 3
▲ Close

2:
# 300514. FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB
Cytogenetic location: Xp22.2
Matching terms: 300514
► 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
Xp22.2 Fanconi anemia, complementation group B 300514 XLR 3 FANCB 300515
▲ Close
Fanconi anemia - PS227650 - 21 Entries
Location Phenotype Inheritance Phenotype
mapping key 		Phenotype
MIM number 		Gene/Locus Gene/Locus
MIM number
1p36.22 ?Fanconi anemia, complementation group V AR 3 617243 MAD2L2 604094
1q32.1 Fanconi anemia, complementation group T AR 3 616435 UBE2T 610538
2p16.1 Fanconi anemia, complementation group L AR 3 614083 PHF9 608111
3p25.3 Fanconi anemia, complementation group D2 AR 3 227646 FANCD2 613984
6p21.31 Fanconi anemia, complementation group E AR 3 600901 FANCE 613976
7q36.1 ?Fanconi anemia, complementation group U AR 3 617247 XRCC2 600375
9p13.3 Fanconi anemia, complementation group G AR 3 614082 XRCC9 602956
9q22.32 Fanconi anemia, complementation group C AR 3 227645 FANCC 613899
11p14.3 Fanconi anemia, complementation group F AR 3 603467 FANCF 613897
13q13.1 Fanconi anemia, complementation group D1 AR 3 605724 BRCA2 600185
15q15.1 Fanconi anemia, complementation group R AD 3 617244 RAD51 179617
15q26.1 Fanconi anemia, complementation group I AR 3 609053 FANCI 611360
16p13.3 Fanconi anemia, complementation group P AR 3 613951 SLX4 613278
16p13.12 Fanconi anemia, complementation group Q AR 3 615272 ERCC4 133520
16p12.2 Fanconi anemia, complementation group N 3 610832 PALB2 610355
16q23.1 ?Fanconi anemia, complementation group W AR 3 617784 RFWD3 614151
16q24.3 Fanconi anemia, complementation group A AR 3 227650 FANCA 607139
17q21.31 Fanconi anemia, complementation group S AR 3 617883 BRCA1 113705
17q22 Fanconi anemia, complementation group O AR 3 613390 RAD51C 602774
17q23.2 Fanconi anemia, complementation group J 3 609054 BRIP1 605882
Xp22.2 Fanconi anemia, complementation group B XLR 3 300514 FANCB 300515
▲ Close
ICD+
ORPHA: 84
DO: 0111098
▲ Close

3:
* 300515. FANCB GENE; FANCB
Cytogenetic location: Xp22.2, Genomic coordinates (GRCh38): X:14,689,524-14,873,069
Matching terms: 300515
► Gene-Phenotype Relationships  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
Xp22.2 Fanconi anemia, complementation group B 300514 XLR 3
▲ Close

4:
# 609053. FANCONI ANEMIA, COMPLEMENTATION GROUP I; FANCI
Cytogenetic location: 15q26.1
Matching terms: 609053
► 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
15q26.1 Fanconi anemia, complementation group I 609053 AR 3 FANCI 611360
▲ Close
Fanconi anemia - PS227650 - 21 Entries
Location Phenotype Inheritance Phenotype
mapping key 		Phenotype
MIM number 		Gene/Locus Gene/Locus
MIM number
1p36.22 ?Fanconi anemia, complementation group V AR 3 617243 MAD2L2 604094
1q32.1 Fanconi anemia, complementation group T AR 3 616435 UBE2T 610538
2p16.1 Fanconi anemia, complementation group L AR 3 614083 PHF9 608111
3p25.3 Fanconi anemia, complementation group D2 AR 3 227646 FANCD2 613984
6p21.31 Fanconi anemia, complementation group E AR 3 600901 FANCE 613976
7q36.1 ?Fanconi anemia, complementation group U AR 3 617247 XRCC2 600375
9p13.3 Fanconi anemia, complementation group G AR 3 614082 XRCC9 602956
9q22.32 Fanconi anemia, complementation group C AR 3 227645 FANCC 613899
11p14.3 Fanconi anemia, complementation group F AR 3 603467 FANCF 613897
13q13.1 Fanconi anemia, complementation group D1 AR 3 605724 BRCA2 600185
15q15.1 Fanconi anemia, complementation group R AD 3 617244 RAD51 179617
15q26.1 Fanconi anemia, complementation group I AR 3 609053 FANCI 611360
16p13.3 Fanconi anemia, complementation group P AR 3 613951 SLX4 613278
16p13.12 Fanconi anemia, complementation group Q AR 3 615272 ERCC4 133520
16p12.2 Fanconi anemia, complementation group N 3 610832 PALB2 610355
16q23.1 ?Fanconi anemia, complementation group W AR 3 617784 RFWD3 614151
16q24.3 Fanconi anemia, complementation group A AR 3 227650 FANCA 607139
17q21.31 Fanconi anemia, complementation group S AR 3 617883 BRCA1 113705
17q22 Fanconi anemia, complementation group O AR 3 613390 RAD51C 602774
17q23.2 Fanconi anemia, complementation group J 3 609054 BRIP1 605882
Xp22.2 Fanconi anemia, complementation group B XLR 3 300514 FANCB 300515
▲ Close
ICD+
ORPHA: 84
DO: 0111091
▲ Close

5:
# 609054. FANCONI ANEMIA, COMPLEMENTATION GROUP J; FANCJ
Cytogenetic location: 17q23.2
Matching terms: 609054
► 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
17q23.2 Fanconi anemia, complementation group J 609054 3 BRIP1 605882
▲ Close
Fanconi anemia - PS227650 - 21 Entries
Location Phenotype Inheritance Phenotype
mapping key 		Phenotype
MIM number 		Gene/Locus Gene/Locus
MIM number
1p36.22 ?Fanconi anemia, complementation group V AR 3 617243 MAD2L2 604094
1q32.1 Fanconi anemia, complementation group T AR 3 616435 UBE2T 610538
2p16.1 Fanconi anemia, complementation group L AR 3 614083 PHF9 608111
3p25.3 Fanconi anemia, complementation group D2 AR 3 227646 FANCD2 613984
6p21.31 Fanconi anemia, complementation group E AR 3 600901 FANCE 613976
7q36.1 ?Fanconi anemia, complementation group U AR 3 617247 XRCC2 600375
9p13.3 Fanconi anemia, complementation group G AR 3 614082 XRCC9 602956
9q22.32 Fanconi anemia, complementation group C AR 3 227645 FANCC 613899
11p14.3 Fanconi anemia, complementation group F AR 3 603467 FANCF 613897
13q13.1 Fanconi anemia, complementation group D1 AR 3 605724 BRCA2 600185
15q15.1 Fanconi anemia, complementation group R AD 3 617244 RAD51 179617
15q26.1 Fanconi anemia, complementation group I AR 3 609053 FANCI 611360
16p13.3 Fanconi anemia, complementation group P AR 3 613951 SLX4 613278
16p13.12 Fanconi anemia, complementation group Q AR 3 615272 ERCC4 133520
16p12.2 Fanconi anemia, complementation group N 3 610832 PALB2 610355
16q23.1 ?Fanconi anemia, complementation group W AR 3 617784 RFWD3 614151
16q24.3 Fanconi anemia, complementation group A AR 3 227650 FANCA 607139
17q21.31 Fanconi anemia, complementation group S AR 3 617883 BRCA1 113705
17q22 Fanconi anemia, complementation group O AR 3 613390 RAD51C 602774
17q23.2 Fanconi anemia, complementation group J 3 609054 BRIP1 605882
Xp22.2 Fanconi anemia, complementation group B XLR 3 300514 FANCB 300515
▲ Close
ICD+
ORPHA: 84
DO: 0111097
▲ Close

6:
* 609644. FANCM GENE; FANCM
Cytogenetic location: 14q21.2, Genomic coordinates (GRCh38): 14:45,135,930-45,200,890
Matching terms: 609644
► Gene-Phenotype Relationships  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
14q21.2 ?Premature ovarian failure 15 618096 AR 3
Spermatogenic failure 28 618086 AR 3
▲ Close

7:
* 610355. PARTNER AND LOCALIZER OF BRCA2; PALB2
Cytogenetic location: 16p12.2, Genomic coordinates (GRCh38): 16:23,603,165-23,641,310
Matching terms: 610355
► Gene-Phenotype Relationships  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
16p12.2 {Breast-ovarian cancer, familial, susceptibility to, 5} 620442 AD 3
{Pancreatic cancer, susceptibility to, 3} 613348 AD 3
Fanconi anemia, complementation group N 610832 3
▲ Close

8:
* 610538. UBIQUITIN-CONJUGATING ENZYME E2 T; UBE2T
Cytogenetic location: 1q32.1, Genomic coordinates (GRCh38): 1:202,331,657-202,341,936
Matching terms: 610538
► Gene-Phenotype Relationships  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
1q32.1 Fanconi anemia, complementation group T 616435 AR 3
▲ Close

9:
# 610832. FANCONI ANEMIA, COMPLEMENTATION GROUP N; FANCN
Cytogenetic location: 16p12.2
Matching terms: 610832
► 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
16p12.2 Fanconi anemia, complementation group N 610832 3 PALB2 610355
▲ Close
Fanconi anemia - PS227650 - 21 Entries
Location Phenotype Inheritance Phenotype
mapping key 		Phenotype
MIM number 		Gene/Locus Gene/Locus
MIM number
1p36.22 ?Fanconi anemia, complementation group V AR 3 617243 MAD2L2 604094
1q32.1 Fanconi anemia, complementation group T AR 3 616435 UBE2T 610538
2p16.1 Fanconi anemia, complementation group L AR 3 614083 PHF9 608111
3p25.3 Fanconi anemia, complementation group D2 AR 3 227646 FANCD2 613984
6p21.31 Fanconi anemia, complementation group E AR 3 600901 FANCE 613976
7q36.1 ?Fanconi anemia, complementation group U AR 3 617247 XRCC2 600375
9p13.3 Fanconi anemia, complementation group G AR 3 614082 XRCC9 602956
9q22.32 Fanconi anemia, complementation group C AR 3 227645 FANCC 613899
11p14.3 Fanconi anemia, complementation group F AR 3 603467 FANCF 613897
13q13.1 Fanconi anemia, complementation group D1 AR 3 605724 BRCA2 600185
15q15.1 Fanconi anemia, complementation group R AD 3 617244 RAD51 179617
15q26.1 Fanconi anemia, complementation group I AR 3 609053 FANCI 611360
16p13.3 Fanconi anemia, complementation group P AR 3 613951 SLX4 613278
16p13.12 Fanconi anemia, complementation group Q AR 3 615272 ERCC4 133520
16p12.2 Fanconi anemia, complementation group N 3 610832 PALB2 610355
16q23.1 ?Fanconi anemia, complementation group W AR 3 617784 RFWD3 614151
16q24.3 Fanconi anemia, complementation group A AR 3 227650 FANCA 607139
17q21.31 Fanconi anemia, complementation group S AR 3 617883 BRCA1 113705
17q22 Fanconi anemia, complementation group O AR 3 613390 RAD51C 602774
17q23.2 Fanconi anemia, complementation group J 3 609054 BRIP1 605882
Xp22.2 Fanconi anemia, complementation group B XLR 3 300514 FANCB 300515
▲ Close
ICD+
ORPHA: 84
DO: 0111094
▲ Close

10:
* 611301. FANCONI ANEMIA-ASSOCIATED PROTEIN, 100-KD SUBUNIT; FAAP100
Cytogenetic location: 17q25.3, Genomic coordinates (GRCh38): 17:81,539,891-81,553,133
Matching terms: 611301
► Links 

« First  |  ‹ Previous  |  Next ›  |  Last »
Search: 113705 133520 179617 227645 227646 227650 300514 300515 600185 600375 600901 602774 602956 603467 604094 605724 605882 607139 608111 609053 609054 609644 610355 610538 610832 611301 611360 613278 613390 613897 613899 613951 613976 613984 614082 614083 614087 614151 615272 616435 617243 617244 617247 617784 617883 (Search in: MIM number)
Results: 45 entries.

1:
* 113705. BRCA1 DNA REPAIR-ASSOCIATED PROTEIN; BRCA1
Cytogenetic location: 17q21.31, Genomic coordinates (GRCh38): 17:43,044,295-43,170,327
Matching terms: 113705

2:
# 300514. FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB
Cytogenetic location: Xp22.2
Matching terms: 300514

3:
* 300515. FANCB GENE; FANCB
Cytogenetic location: Xp22.2, Genomic coordinates (GRCh38): X:14,689,524-14,873,069
Matching terms: 300515

4:
# 609053. FANCONI ANEMIA, COMPLEMENTATION GROUP I; FANCI
Cytogenetic location: 15q26.1
Matching terms: 609053

5:
# 609054. FANCONI ANEMIA, COMPLEMENTATION GROUP J; FANCJ
Cytogenetic location: 17q23.2
Matching terms: 609054

6:
* 609644. FANCM GENE; FANCM
Cytogenetic location: 14q21.2, Genomic coordinates (GRCh38): 14:45,135,930-45,200,890
Matching terms: 609644

7:
* 610355. PARTNER AND LOCALIZER OF BRCA2; PALB2
Cytogenetic location: 16p12.2, Genomic coordinates (GRCh38): 16:23,603,165-23,641,310
Matching terms: 610355

8:
* 610538. UBIQUITIN-CONJUGATING ENZYME E2 T; UBE2T
Cytogenetic location: 1q32.1, Genomic coordinates (GRCh38): 1:202,331,657-202,341,936
Matching terms: 610538

9:
# 610832. FANCONI ANEMIA, COMPLEMENTATION GROUP N; FANCN
Cytogenetic location: 16p12.2
Matching terms: 610832

10:
* 611301. FANCONI ANEMIA-ASSOCIATED PROTEIN, 100-KD SUBUNIT; FAAP100
Cytogenetic location: 17q25.3, Genomic coordinates (GRCh38): 17:81,539,891-81,553,133
Matching terms: 611301


NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.

NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.
Printed: May 11, 2024