BMFS1
MCID: BNM010
MIFTS: 27

Bone Marrow Failure Syndrome 1 (BMFS1)

Categories: Blood diseases, Bone diseases, Genetic diseases, Immune diseases, Rare diseases, Skin diseases

Aliases & Classifications for Bone Marrow Failure Syndrome 1

MalaCards integrated aliases for Bone Marrow Failure Syndrome 1:

Name: Bone Marrow Failure Syndrome 1 58 76 30 6 74
Bmfs1 58 76
Autosomal Dominant Aplastic Anemia and Myelodysplasia 60
Autosomal Dominant Aplasia and Myelodysplasia 60
Bone Marrow Failure Syndrome, Type 1 41
Bone Marrow Failure, Familial 13
Familial Bone Marrow Failure 76
Bmff 76

Characteristics:

Orphanet epidemiological data:

60
autosomal dominant aplasia and myelodysplasia
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
onset in childhood
two unrelated families have been reported (last curated june 2012)


HPO:

33
bone marrow failure syndrome 1:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Bone Marrow Failure Syndrome 1

UniProtKB/Swiss-Prot : 76 Bone marrow failure syndrome 1: An autosomal dominant disease characterized by aplastic anemia and myelodysplasia resulting from bone marrow failure. Aplastic anemia is a form of anemia in which the bone marrow fails to produce adequate numbers of peripheral blood elements. Myelodysplasia is a clonal hematopoietic stem cell disorder in which immature cells in the bone marrow become malformed and dysfunctional.

MalaCards based summary : Bone Marrow Failure Syndrome 1, also known as bmfs1, is related to bone marrow failure syndrome 2 and bone marrow failure syndrome 3. An important gene associated with Bone Marrow Failure Syndrome 1 is SRP72 (Signal Recognition Particle 72). Affiliated tissues include bone, bone marrow and skin, and related phenotypes are hearing impairment and bone marrow hypocellularity

Description from OMIM: 614675

Related Diseases for Bone Marrow Failure Syndrome 1

Diseases in the Inherited Bone Marrow Failure Syndromes family:

Bone Marrow Failure Syndrome 1 Bone Marrow Failure Syndrome 2
Bone Marrow Failure Syndrome 3 Bone Marrow Failure Syndrome 4
Bone Marrow Failure Syndrome 5

Diseases related to Bone Marrow Failure Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 7, show less)
# Related Disease Score Top Affiliating Genes
1 bone marrow failure syndrome 2 11.1
2 bone marrow failure syndrome 3 11.1
3 bone marrow failure syndrome 4 11.1
4 bone marrow failure syndrome 5 11.1
5 aplastic anemia 9.8
6 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 9.8
7 hepatitis 9.8

Graphical network of the top 20 diseases related to Bone Marrow Failure Syndrome 1:



Diseases related to Bone Marrow Failure Syndrome 1

Symptoms & Phenotypes for Bone Marrow Failure Syndrome 1

Human phenotypes related to Bone Marrow Failure Syndrome 1:

33 (showing 4, show less)
# Description HPO Frequency HPO Source Accession
1 hearing impairment 33 HP:0000365
2 bone marrow hypocellularity 33 HP:0005528
3 aplastic anemia 33 HP:0001915
4 myelodysplasia 33 HP:0002863

Symptoms via clinical synopsis from OMIM:

58
Hematology:
pancytopenia
aplastic anemia
myelodysplasia

Head And Neck Ears:
deafness (in 1 of 2 families)

Clinical features from OMIM:

614675

Drugs & Therapeutics for Bone Marrow Failure Syndrome 1

Search Clinical Trials , NIH Clinical Center for Bone Marrow Failure Syndrome 1

Genetic Tests for Bone Marrow Failure Syndrome 1

Genetic tests related to Bone Marrow Failure Syndrome 1:

# Genetic test Affiliating Genes
1 Bone Marrow Failure Syndrome 1 30 SRP72

Anatomical Context for Bone Marrow Failure Syndrome 1

MalaCards organs/tissues related to Bone Marrow Failure Syndrome 1:

42
Bone, Bone Marrow, Skin

Publications for Bone Marrow Failure Syndrome 1

Articles related to Bone Marrow Failure Syndrome 1:

(showing 2, show less)
# Title Authors Year
1
Exome sequencing identifies autosomal-dominant SRP72 mutations associated with familial aplasia and myelodysplasia. ( 22541560 )
2012
2
Hepatitis-associated aplastic anemia presenting as a familial bone marrow failure syndrome. ( 19779378 )
2009

Variations for Bone Marrow Failure Syndrome 1

UniProtKB/Swiss-Prot genetic disease variations for Bone Marrow Failure Syndrome 1:

76 (showing 1, show less)
# Symbol AA change Variation ID SNP ID
1 SRP72 p.Arg207His VAR_068522 rs387907189

ClinVar genetic disease variations for Bone Marrow Failure Syndrome 1:

6 (showing 110, show less)
# Gene Variation Type Significance SNP ID Assembly Location
1 SRP72 NM_006947.3(SRP72): c.1064_1065delCA (p.Thr355Lysfs) deletion Pathogenic rs587776907 GRCh37 Chromosome 4, 57351008: 57351009
2 SRP72 NM_006947.3(SRP72): c.1064_1065delCA (p.Thr355Lysfs) deletion Pathogenic rs587776907 GRCh38 Chromosome 4, 56484842: 56484843
3 SRP72 NM_006947.3(SRP72): c.620G> A (p.Arg207His) single nucleotide variant Pathogenic rs387907189 GRCh37 Chromosome 4, 57342846: 57342846
4 SRP72 NM_006947.3(SRP72): c.620G> A (p.Arg207His) single nucleotide variant Pathogenic rs387907189 GRCh38 Chromosome 4, 56476680: 56476680
5 SRP72 NM_006947.3(SRP72): c.1589T> C (p.Ile530Thr) single nucleotide variant Likely benign rs192401229 GRCh38 Chromosome 4, 56491517: 56491517
6 SRP72 NM_006947.3(SRP72): c.1589T> C (p.Ile530Thr) single nucleotide variant Likely benign rs192401229 GRCh37 Chromosome 4, 57357683: 57357683
7 SRP72 NM_006947.3(SRP72): c.21G> T (p.Gly7=) single nucleotide variant Benign rs12513091 GRCh38 Chromosome 4, 56467656: 56467656
8 SRP72 NM_006947.3(SRP72): c.21G> T (p.Gly7=) single nucleotide variant Benign rs12513091 GRCh37 Chromosome 4, 57333822: 57333822
9 SRP72 NM_006947.3(SRP72): c.973A> G (p.Lys325Glu) single nucleotide variant Uncertain significance rs763655714 GRCh38 Chromosome 4, 56484751: 56484751
10 SRP72 NM_006947.3(SRP72): c.973A> G (p.Lys325Glu) single nucleotide variant Uncertain significance rs763655714 GRCh37 Chromosome 4, 57350917: 57350917
11 SRP72 NM_006947.3(SRP72): c.*127_*128delGT deletion Uncertain significance rs886059498 GRCh38 Chromosome 4, 56501988: 56501989
12 SRP72 NM_006947.3(SRP72): c.*127_*128delGT deletion Uncertain significance rs886059498 GRCh37 Chromosome 4, 57368154: 57368155
13 SRP72 NM_006947.3(SRP72): c.*407T> C single nucleotide variant Likely benign rs541665813 GRCh38 Chromosome 4, 56502268: 56502268
14 SRP72 NM_006947.3(SRP72): c.*407T> C single nucleotide variant Likely benign rs541665813 GRCh37 Chromosome 4, 57368434: 57368434
15 SRP72 NM_006947.4(SRP72): c.*647_*652dup duplication Uncertain significance rs35852754 GRCh38 Chromosome 4, 56502508: 56502513
16 SRP72 NM_006947.4(SRP72): c.*647_*652dup duplication Uncertain significance rs35852754 GRCh37 Chromosome 4, 57368674: 57368679
17 SRP72 NM_006947.3(SRP72): c.*732A> G single nucleotide variant Benign rs14211 GRCh38 Chromosome 4, 56502593: 56502593
18 SRP72 NM_006947.3(SRP72): c.*732A> G single nucleotide variant Benign rs14211 GRCh37 Chromosome 4, 57368759: 57368759
19 SRP72 NM_006947.3(SRP72): c.*839T> C single nucleotide variant Uncertain significance rs757066668 GRCh38 Chromosome 4, 56502700: 56502700
20 SRP72 NM_006947.3(SRP72): c.*839T> C single nucleotide variant Uncertain significance rs757066668 GRCh37 Chromosome 4, 57368866: 57368866
21 SRP72 NM_006947.3(SRP72): c.*1603A> G single nucleotide variant Benign rs1142851 GRCh38 Chromosome 4, 56503464: 56503464
22 SRP72 NM_006947.3(SRP72): c.*1603A> G single nucleotide variant Benign rs1142851 GRCh37 Chromosome 4, 57369630: 57369630
23 SRP72 NM_006947.3(SRP72): c.*1764A> G single nucleotide variant Likely benign rs192226722 GRCh38 Chromosome 4, 56503625: 56503625
24 SRP72 NM_006947.3(SRP72): c.*1764A> G single nucleotide variant Likely benign rs192226722 GRCh37 Chromosome 4, 57369791: 57369791
25 SRP72 NM_006947.3(SRP72): c.133G> A (p.Val45Ile) single nucleotide variant Uncertain significance rs201940585 GRCh38 Chromosome 4, 56469676: 56469676
26 SRP72 NM_006947.3(SRP72): c.133G> A (p.Val45Ile) single nucleotide variant Uncertain significance rs201940585 GRCh37 Chromosome 4, 57335842: 57335842
27 SRP72 NM_006947.3(SRP72): c.144G> T (p.Leu48=) single nucleotide variant Likely benign rs112496764 GRCh38 Chromosome 4, 56469687: 56469687
28 SRP72 NM_006947.3(SRP72): c.144G> T (p.Leu48=) single nucleotide variant Likely benign rs112496764 GRCh37 Chromosome 4, 57335853: 57335853
29 SRP72 NM_006947.3(SRP72): c.294G> A (p.Leu98=) single nucleotide variant Uncertain significance rs145137299 GRCh38 Chromosome 4, 56471783: 56471783
30 SRP72 NM_006947.3(SRP72): c.294G> A (p.Leu98=) single nucleotide variant Uncertain significance rs145137299 GRCh37 Chromosome 4, 57337949: 57337949
31 SRP72 NM_006947.3(SRP72): c.1650T> C (p.Asp550=) single nucleotide variant Likely benign rs202073540 GRCh38 Chromosome 4, 56495366: 56495366
32 SRP72 NM_006947.3(SRP72): c.1650T> C (p.Asp550=) single nucleotide variant Likely benign rs202073540 GRCh37 Chromosome 4, 57361532: 57361532
33 SRP72 NM_006947.3(SRP72): c.1704A> G (p.Pro568=) single nucleotide variant Likely benign rs41280351 GRCh38 Chromosome 4, 56500561: 56500561
34 SRP72 NM_006947.3(SRP72): c.1704A> G (p.Pro568=) single nucleotide variant Likely benign rs41280351 GRCh37 Chromosome 4, 57366727: 57366727
35 SRP72 NM_006947.3(SRP72): c.2004A> G (p.Lys668=) single nucleotide variant Likely benign rs148068843 GRCh38 Chromosome 4, 56501849: 56501849
36 SRP72 NM_006947.3(SRP72): c.2004A> G (p.Lys668=) single nucleotide variant Likely benign rs148068843 GRCh37 Chromosome 4, 57368015: 57368015
37 SRP72 NM_006947.3(SRP72): c.*139G> A single nucleotide variant Benign rs28438730 GRCh38 Chromosome 4, 56502000: 56502000
38 SRP72 NM_006947.3(SRP72): c.*139G> A single nucleotide variant Benign rs28438730 GRCh37 Chromosome 4, 57368166: 57368166
39 SRP72 NM_006947.3(SRP72): c.*173T> C single nucleotide variant Benign rs10051 GRCh38 Chromosome 4, 56502034: 56502034
40 SRP72 NM_006947.3(SRP72): c.*173T> C single nucleotide variant Benign rs10051 GRCh37 Chromosome 4, 57368200: 57368200
41 SRP72 NM_006947.3(SRP72): c.*221A> G single nucleotide variant Likely benign rs149250989 GRCh38 Chromosome 4, 56502082: 56502082
42 SRP72 NM_006947.3(SRP72): c.*221A> G single nucleotide variant Likely benign rs149250989 GRCh37 Chromosome 4, 57368248: 57368248
43 SRP72 NM_006947.3(SRP72): c.*321A> G single nucleotide variant Uncertain significance rs886059499 GRCh38 Chromosome 4, 56502182: 56502182
44 SRP72 NM_006947.3(SRP72): c.*321A> G single nucleotide variant Uncertain significance rs886059499 GRCh37 Chromosome 4, 57368348: 57368348
45 SRP72 NM_006947.3(SRP72): c.*442A> G single nucleotide variant Benign rs7762 GRCh38 Chromosome 4, 56502303: 56502303
46 SRP72 NM_006947.3(SRP72): c.*442A> G single nucleotide variant Benign rs7762 GRCh37 Chromosome 4, 57368469: 57368469
47 SRP72 NM_006947.3(SRP72): c.*606A> T single nucleotide variant Uncertain significance rs868279024 GRCh38 Chromosome 4, 56502467: 56502467
48 SRP72 NM_006947.3(SRP72): c.*606A> T single nucleotide variant Uncertain significance rs868279024 GRCh37 Chromosome 4, 57368633: 57368633
49 SRP72 NM_006947.3(SRP72): c.*635C> T single nucleotide variant Uncertain significance rs200981113 GRCh38 Chromosome 4, 56502496: 56502496
50 SRP72 NM_006947.3(SRP72): c.*635C> T single nucleotide variant Uncertain significance rs200981113 GRCh37 Chromosome 4, 57368662: 57368662
51 SRP72 NM_006947.3(SRP72): c.*651_*652delTA deletion Uncertain significance rs35852754 GRCh38 Chromosome 4, 56502512: 56502513
52 SRP72 NM_006947.3(SRP72): c.*651_*652delTA deletion Uncertain significance rs35852754 GRCh37 Chromosome 4, 57368678: 57368679
53 SRP72 NM_006947.3(SRP72): c.*780C> T single nucleotide variant Benign rs10518 GRCh38 Chromosome 4, 56502641: 56502641
54 SRP72 NM_006947.3(SRP72): c.*780C> T single nucleotide variant Benign rs10518 GRCh37 Chromosome 4, 57368807: 57368807
55 SRP72 NM_006947.3(SRP72): c.*1678C> T single nucleotide variant Uncertain significance rs886059503 GRCh38 Chromosome 4, 56503539: 56503539
56 SRP72 NM_006947.3(SRP72): c.*1678C> T single nucleotide variant Uncertain significance rs886059503 GRCh37 Chromosome 4, 57369705: 57369705
57 SRP72 NM_006947.3(SRP72): c.*1769T> G single nucleotide variant Uncertain significance rs886059504 GRCh38 Chromosome 4, 56503630: 56503630
58 SRP72 NM_006947.3(SRP72): c.*1769T> G single nucleotide variant Uncertain significance rs886059504 GRCh37 Chromosome 4, 57369796: 57369796
59 SRP72 NM_006947.3(SRP72): c.20G> A (p.Gly7Glu) single nucleotide variant Uncertain significance rs139502866 GRCh38 Chromosome 4, 56467655: 56467655
60 SRP72 NM_006947.3(SRP72): c.20G> A (p.Gly7Glu) single nucleotide variant Uncertain significance rs139502866 GRCh37 Chromosome 4, 57333821: 57333821
61 SRP72 NM_006947.3(SRP72): c.23G> A (p.Gly8Glu) single nucleotide variant Likely benign rs760960779 GRCh38 Chromosome 4, 56467658: 56467658
62 SRP72 NM_006947.3(SRP72): c.23G> A (p.Gly8Glu) single nucleotide variant Likely benign rs760960779 GRCh37 Chromosome 4, 57333824: 57333824
63 SRP72 NM_006947.3(SRP72): c.19G> T (p.Gly7Trp) single nucleotide variant Benign rs17524437 GRCh38 Chromosome 4, 56467654: 56467654
64 SRP72 NM_006947.3(SRP72): c.19G> T (p.Gly7Trp) single nucleotide variant Benign rs17524437 GRCh37 Chromosome 4, 57333820: 57333820
65 SRP72 NM_006947.3(SRP72): c.686A> G (p.His229Arg) single nucleotide variant Benign rs138986942 GRCh38 Chromosome 4, 56478422: 56478422
66 SRP72 NM_006947.3(SRP72): c.686A> G (p.His229Arg) single nucleotide variant Benign rs138986942 GRCh37 Chromosome 4, 57344588: 57344588
67 SRP72 NM_006947.3(SRP72): c.37G> T (p.Ala13Ser) single nucleotide variant Uncertain significance rs781230154 GRCh38 Chromosome 4, 56467672: 56467672
68 SRP72 NM_006947.3(SRP72): c.37G> T (p.Ala13Ser) single nucleotide variant Uncertain significance rs781230154 GRCh37 Chromosome 4, 57333838: 57333838
69 SRP72 NM_006947.3(SRP72): c.58C> T (p.Arg20Trp) single nucleotide variant Likely benign rs111673705 GRCh38 Chromosome 4, 56467693: 56467693
70 SRP72 NM_006947.3(SRP72): c.58C> T (p.Arg20Trp) single nucleotide variant Likely benign rs111673705 GRCh37 Chromosome 4, 57333859: 57333859
71 SRP72 NM_006947.3(SRP72): c.406G> A (p.Val136Ile) single nucleotide variant Likely benign rs145817936 GRCh38 Chromosome 4, 56474105: 56474105
72 SRP72 NM_006947.3(SRP72): c.406G> A (p.Val136Ile) single nucleotide variant Likely benign rs145817936 GRCh37 Chromosome 4, 57340271: 57340271
73 SRP72 NM_006947.3(SRP72): c.789A> G (p.Leu263=) single nucleotide variant Likely benign rs77935196 GRCh38 Chromosome 4, 56478613: 56478613
74 SRP72 NM_006947.3(SRP72): c.789A> G (p.Leu263=) single nucleotide variant Likely benign rs77935196 GRCh37 Chromosome 4, 57344779: 57344779
75 SRP72 NM_006947.4(SRP72): c.1640+6dup duplication Benign/Likely benign rs572508224 GRCh38 Chromosome 4, 56491574: 56491574
76 SRP72 NM_006947.4(SRP72): c.1640+6dup duplication Benign/Likely benign rs572508224 GRCh37 Chromosome 4, 57357740: 57357740
77 SRP72 NM_006947.3(SRP72): c.1225-6G> A single nucleotide variant Uncertain significance rs752594366 GRCh38 Chromosome 4, 56489382: 56489382
78 SRP72 NM_006947.3(SRP72): c.1225-6G> A single nucleotide variant Uncertain significance rs752594366 GRCh37 Chromosome 4, 57355548: 57355548
79 SRP72 NM_006947.3(SRP72): c.1380T> C (p.Tyr460=) single nucleotide variant Likely benign rs73818109 GRCh38 Chromosome 4, 56490392: 56490392
80 SRP72 NM_006947.3(SRP72): c.1380T> C (p.Tyr460=) single nucleotide variant Likely benign rs73818109 GRCh37 Chromosome 4, 57356558: 57356558
81 SRP72 NM_006947.3(SRP72): c.1671A> G (p.Lys557=) single nucleotide variant Benign rs34419325 GRCh38 Chromosome 4, 56495387: 56495387
82 SRP72 NM_006947.3(SRP72): c.1671A> G (p.Lys557=) single nucleotide variant Benign rs34419325 GRCh37 Chromosome 4, 57361553: 57361553
83 SRP72 NM_006947.3(SRP72): c.*227G> A single nucleotide variant Uncertain significance rs879875987 GRCh38 Chromosome 4, 56502088: 56502088
84 SRP72 NM_006947.3(SRP72): c.1698T> C (p.Tyr566=) single nucleotide variant Likely benign rs145347209 GRCh38 Chromosome 4, 56500555: 56500555
85 SRP72 NM_006947.3(SRP72): c.1698T> C (p.Tyr566=) single nucleotide variant Likely benign rs145347209 GRCh37 Chromosome 4, 57366721: 57366721
86 SRP72 NM_006947.3(SRP72): c.*194G> A single nucleotide variant Likely benign rs188713088 GRCh38 Chromosome 4, 56502055: 56502055
87 SRP72 NM_006947.3(SRP72): c.*194G> A single nucleotide variant Likely benign rs188713088 GRCh37 Chromosome 4, 57368221: 57368221
88 SRP72 NM_006947.3(SRP72): c.*227G> A single nucleotide variant Uncertain significance rs879875987 GRCh37 Chromosome 4, 57368254: 57368254
89 SRP72 NM_006947.4(SRP72): c.*618_*621dup duplication Uncertain significance rs201131530 GRCh38 Chromosome 4, 56502479: 56502482
90 SRP72 NM_006947.4(SRP72): c.*618_*621dup duplication Uncertain significance rs201131530 GRCh37 Chromosome 4, 57368645: 57368648
91 SRP72 NM_006947.3(SRP72): c.*622_*649del28 deletion Benign rs59791697 GRCh38 Chromosome 4, 56502483: 56502510
92 SRP72 NM_006947.3(SRP72): c.*622_*649del28 deletion Benign rs59791697 GRCh37 Chromosome 4, 57368649: 57368676
93 SRP72 NM_006947.3(SRP72): c.*1227_*1232delCTCTGA deletion Uncertain significance rs886059502 GRCh38 Chromosome 4, 56503088: 56503093
94 SRP72 NM_006947.3(SRP72): c.*1227_*1232delCTCTGA deletion Uncertain significance rs886059502 GRCh37 Chromosome 4, 57369254: 57369259
95 SRP72 NM_006947.3(SRP72): c.1410A> G (p.Leu470=) single nucleotide variant Benign rs17086879 GRCh38 Chromosome 4, 56490422: 56490422
96 SRP72 NM_006947.3(SRP72): c.1410A> G (p.Leu470=) single nucleotide variant Benign rs17086879 GRCh37 Chromosome 4, 57356588: 57356588
97 SRP72 NM_006947.3(SRP72): c.1803G> A (p.Gly601=) single nucleotide variant Likely benign rs143643243 GRCh38 Chromosome 4, 56500660: 56500660
98 SRP72 NM_006947.3(SRP72): c.1803G> A (p.Gly601=) single nucleotide variant Likely benign rs143643243 GRCh37 Chromosome 4, 57366826: 57366826
99 SRP72 NM_006947.3(SRP72): c.*24G> A single nucleotide variant Likely benign rs144710632 GRCh38 Chromosome 4, 56501885: 56501885
100 SRP72 NM_006947.3(SRP72): c.*24G> A single nucleotide variant Likely benign rs144710632 GRCh37 Chromosome 4, 57368051: 57368051
101 SRP72 NM_006947.3(SRP72): c.*386G> A single nucleotide variant Benign rs4260596 GRCh38 Chromosome 4, 56502247: 56502247
102 SRP72 NM_006947.3(SRP72): c.*386G> A single nucleotide variant Benign rs4260596 GRCh37 Chromosome 4, 57368413: 57368413
103 SRP72 NM_006947.3(SRP72): c.*558T> C single nucleotide variant Likely benign rs568178342 GRCh38 Chromosome 4, 56502419: 56502419
104 SRP72 NM_006947.3(SRP72): c.*558T> C single nucleotide variant Likely benign rs568178342 GRCh37 Chromosome 4, 57368585: 57368585
105 SRP72 NM_006947.4(SRP72): c.*651_*652dup duplication Uncertain significance rs35852754 GRCh38 Chromosome 4, 56502512: 56502513
106 SRP72 NM_006947.4(SRP72): c.*651_*652dup duplication Uncertain significance rs35852754 GRCh37 Chromosome 4, 57368678: 57368679
107 SRP72 NM_006947.3(SRP72): c.*972G> A single nucleotide variant Likely benign rs189886380 GRCh38 Chromosome 4, 56502833: 56502833
108 SRP72 NM_006947.3(SRP72): c.*972G> A single nucleotide variant Likely benign rs189886380 GRCh37 Chromosome 4, 57368999: 57368999
109 SRP72 NM_006947.3(SRP72): c.*1313C> G single nucleotide variant Benign rs113719942 GRCh38 Chromosome 4, 56503174: 56503174
110 SRP72 NM_006947.3(SRP72): c.*1313C> G single nucleotide variant Benign rs113719942 GRCh37 Chromosome 4, 57369340: 57369340

Expression for Bone Marrow Failure Syndrome 1

Search GEO for disease gene expression data for Bone Marrow Failure Syndrome 1.

Pathways for Bone Marrow Failure Syndrome 1

GO Terms for Bone Marrow Failure Syndrome 1

Sources for Bone Marrow Failure Syndrome 1

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