HBG2

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: The gamma globin genes (HBG1 and HBG2) are normally expressed in the fetal liver, spleen and bone marrow. Two gamma chains together with two alpha chains constitute fetal hemoglobin (HbF) which is normally replaced by adult hemoglobin (HbA) at birth. In some beta-thalassemias and related conditions, gamma chain production continues into adulthood. The two types of gamma chains differ at residue 136 where glycine is found in the G-gamma product (HBG2) and alanine is found in the A-gamma product (HBG1). The former is predominant at birth. The order of the genes in the beta-globin cluster is: 5'- epsilon -- gamma-G -- gamma-A -- delta -- beta--3'. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1erythrocyte maturation (GO:0043249)9.30065559
2porphyrin-containing compound biosynthetic process (GO:0006779)9.08811106
3tetrapyrrole biosynthetic process (GO:0033014)8.07340443
4erythrocyte development (GO:0048821)7.78236301
5porphyrin-containing compound metabolic process (GO:0006778)7.68559368
6heme biosynthetic process (GO:0006783)7.51546705
7hemoglobin metabolic process (GO:0020027)6.80228627
8heme metabolic process (GO:0042168)6.47706810
9negative regulation of erythrocyte differentiation (GO:0045647)6.38570168
10myeloid cell development (GO:0061515)5.27962248
11granulocyte differentiation (GO:0030851)5.25440484
12iron ion import (GO:0097286)5.21015595
13tetrapyrrole metabolic process (GO:0033013)4.79395074
14response to methylmercury (GO:0051597)4.47045592
15definitive hemopoiesis (GO:0060216)4.43318855
16regulation of response to osmotic stress (GO:0047484)4.29961119
17one-carbon compound transport (GO:0019755)4.19279162
18regulation of erythrocyte differentiation (GO:0045646)4.04396155
19nuclear pore complex assembly (GO:0051292)3.89931571
20regulation of RNA export from nucleus (GO:0046831)3.81539844
21DNA topological change (GO:0006265)3.79690829
22protein-cofactor linkage (GO:0018065)3.74795259
23pigment biosynthetic process (GO:0046148)3.74603018
24DNA replication checkpoint (GO:0000076)3.72823446
25positive regulation of granulocyte differentiation (GO:0030854)3.70729665
26positive regulation of megakaryocyte differentiation (GO:0045654)3.63490020
27megakaryocyte development (GO:0035855)3.61949952
28platelet formation (GO:0030220)3.57149881
29erythrocyte differentiation (GO:0030218)3.55211141
30nuclear pore organization (GO:0006999)3.43066953
31DNA unwinding involved in DNA replication (GO:0006268)3.39184184
32positive regulation of erythrocyte differentiation (GO:0045648)3.35545820
33DNA replication initiation (GO:0006270)3.34626036
34proline biosynthetic process (GO:0006561)3.32637178
35response to insecticide (GO:0017085)3.30120398
36homocysteine metabolic process (GO:0050667)3.28730715
37regulation of histone H3-K4 methylation (GO:0051569)3.28341287
38pigment metabolic process (GO:0042440)3.26833084
39embryonic hemopoiesis (GO:0035162)3.21622054
40regulation of nucleobase-containing compound transport (GO:0032239)3.13864932
41negative regulation of amyloid precursor protein catabolic process (GO:1902992)3.13087151
42regulation of translational fidelity (GO:0006450)3.12593711
43response to lead ion (GO:0010288)3.07404477
44regulation of histone H3-K9 methylation (GO:0051570)3.07159862
45mitotic chromosome condensation (GO:0007076)3.06185025
46regulation of histone H3-K27 methylation (GO:0061085)3.05976993
47positive regulation of hematopoietic progenitor cell differentiation (GO:1901534)3.00841958
48Peyers patch development (GO:0048541)2.96207444
49mucosal-associated lymphoid tissue development (GO:0048537)2.96207444
50DNA strand elongation involved in DNA replication (GO:0006271)2.92123598
51regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)2.90466436
52hematopoietic stem cell differentiation (GO:0060218)2.88047811
53autophagic vacuole fusion (GO:0000046)2.87997202
54mitotic nuclear envelope disassembly (GO:0007077)2.87097422
55potassium ion export (GO:0071435)2.86893439
56positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S tr2.86747061
57DNA strand elongation (GO:0022616)2.84942468
58positive regulation of B cell differentiation (GO:0045579)2.84418140
59mitotic sister chromatid segregation (GO:0000070)2.81217092
60glycine transport (GO:0015816)2.80980899
61synapsis (GO:0007129)2.76806837
62pore complex assembly (GO:0046931)2.76441291
63deoxyribose phosphate biosynthetic process (GO:0046385)2.75305412
642-deoxyribonucleotide biosynthetic process (GO:0009265)2.75305412
65negative regulation of potassium ion transmembrane transport (GO:1901380)2.75218739
66deoxyribonucleoside monophosphate metabolic process (GO:0009162)2.72899065
67cellular response to thyroid hormone stimulus (GO:0097067)2.72836646
68viral transcription (GO:0019083)2.72289905
69meiotic chromosome segregation (GO:0045132)2.71293503
70sister chromatid segregation (GO:0000819)2.70873356
71neutrophil activation involved in immune response (GO:0002283)2.70621977
72nuclear envelope disassembly (GO:0051081)2.70601473
73membrane disassembly (GO:0030397)2.70601473
74positive regulation of gamma-delta T cell activation (GO:0046645)2.67980704
75translational termination (GO:0006415)2.65810496
76telomere maintenance via semi-conservative replication (GO:0032201)2.62104515
77organelle membrane fusion (GO:0090174)2.60952237
78negative regulation of fatty acid biosynthetic process (GO:0045717)2.58644730
79negative regulation of histone methylation (GO:0031061)2.58189541
80formation of translation preinitiation complex (GO:0001731)2.48937642
81regulation of chromatin binding (GO:0035561)2.47326079
82deoxyribonucleotide biosynthetic process (GO:0009263)2.46924928
83regulation of histone methylation (GO:0031060)2.46403528
84modulation by virus of host process (GO:0019054)2.45926223
85diterpenoid biosynthetic process (GO:0016102)2.45179103
86ribosomal small subunit assembly (GO:0000028)2.43572699
87proteasome assembly (GO:0043248)2.43475025
88DNA synthesis involved in DNA repair (GO:0000731)2.43120816
89resolution of meiotic recombination intermediates (GO:0000712)2.41598018
90energy coupled proton transport, down electrochemical gradient (GO:0015985)2.41524871
91ATP synthesis coupled proton transport (GO:0015986)2.41524871
92positive regulation of histone methylation (GO:0031062)2.40952924
93tetrahydrofolate metabolic process (GO:0046653)2.40738822
94kinetochore organization (GO:0051383)2.39883894
95very-low-density lipoprotein particle assembly (GO:0034379)2.39864414
96natural killer cell differentiation (GO:0001779)2.39249556
97* oxygen transport (GO:0015671)13.9325039
98* gas transport (GO:0015669)13.0482243
99protoporphyrinogen IX metabolic process (GO:0046501)12.8670595
100protoporphyrinogen IX biosynthetic process (GO:0006782)11.4725191

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human8.52204751
2GATA1_22025678_ChIP-Seq_K562_Human6.44999132
3GATA1_19941826_ChIP-Seq_K562_Human4.96906659
4EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse4.30066232
5FOXM1_23109430_ChIP-Seq_U2OS_Human3.46926379
6GATA2_19941826_ChIP-Seq_K562_Human3.16845020
7E2F4_17652178_ChIP-ChIP_JURKAT_Human2.96545680
8NCOR1_26117541_ChIP-Seq_K562_Human2.80363252
9EGR1_19374776_ChIP-ChIP_THP-1_Human2.72003248
10HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.68047950
11SCL_19346495_ChIP-Seq_HPC-7_Human2.65810203
12MYC_18555785_ChIP-Seq_MESCs_Mouse2.23228716
13TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse2.20034558
14EST1_17652178_ChIP-ChIP_JURKAT_Human2.16774999
15FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.16057159
16KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.14861372
17ELF1_17652178_ChIP-ChIP_JURKAT_Human2.08705171
18THAP11_20581084_ChIP-Seq_MESCs_Mouse1.98947319
19ETS1_20019798_ChIP-Seq_JURKAT_Human1.87833485
20MYC_18358816_ChIP-ChIP_MESCs_Mouse1.86779622
21CREB1_15753290_ChIP-ChIP_HEK293T_Human1.78246166
22SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.76153330
23MYC_22102868_ChIP-Seq_BL_Human1.75050885
24XRN2_22483619_ChIP-Seq_HELA_Human1.72572809
25JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.69167232
26GATA1_22383799_ChIP-Seq_G1ME_Mouse1.68150598
27TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.65630677
28GATA1_19941827_ChIP-Seq_MEL_Mouse1.63609443
29GABP_17652178_ChIP-ChIP_JURKAT_Human1.60150052
30MYC_19030024_ChIP-ChIP_MESCs_Mouse1.59348594
31DCP1A_22483619_ChIP-Seq_HELA_Human1.58519263
32FOXP3_21729870_ChIP-Seq_TREG_Human1.57176454
33MYC_19079543_ChIP-ChIP_MESCs_Mouse1.55782046
34CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.53993104
35SRF_21415370_ChIP-Seq_HL-1_Mouse1.53646769
36HOXB4_20404135_ChIP-ChIP_EML_Mouse1.52657554
37ZNF263_19887448_ChIP-Seq_K562_Human1.49719017
38SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.49052280
39SPI1_23127762_ChIP-Seq_K562_Human1.45426025
40E2F1_21310950_ChIP-Seq_MCF-7_Human1.41589705
41VDR_23849224_ChIP-Seq_CD4+_Human1.41357050
42PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.40367100
43KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse1.38402011
44NELFA_20434984_ChIP-Seq_ESCs_Mouse1.37980256
45MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.37344051
46CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.34830976
47ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.34812273
48VDR_21846776_ChIP-Seq_THP-1_Human1.33076962
49TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.30091933
50KDM5A_27292631_Chip-Seq_BREAST_Human1.27834749
51MECOM_23826213_ChIP-Seq_KASUMI_Mouse1.27106300
52FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.26841893
53CIITA_25753668_ChIP-Seq_RAJI_Human1.26647099
54POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.26249639
55GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.25924383
56TTF2_22483619_ChIP-Seq_HELA_Human1.23792015
57CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.23035851
58BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.22734740
59MAF_26560356_Chip-Seq_TH1_Human1.22454082
60E2F1_18555785_ChIP-Seq_MESCs_Mouse1.20310707
61YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.16272693
62AR_21909140_ChIP-Seq_LNCAP_Human1.13942745
63MYCN_18555785_ChIP-Seq_MESCs_Mouse1.13016809
64MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.12221156
65PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.08333696
66GATA2_22383799_ChIP-Seq_G1ME_Mouse1.08303452
67GABP_19822575_ChIP-Seq_HepG2_Human1.06309480
68TFEB_21752829_ChIP-Seq_HELA_Human1.05881515
69SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.05835426
70SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.05043605
71ERG_20887958_ChIP-Seq_HPC-7_Mouse1.04395328
72SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.03670706
73CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.03310642
74STAT3_1855785_ChIP-Seq_MESCs_Mouse1.00971338
75KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.00720858
76MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.00621574
77ELK1_19687146_ChIP-ChIP_HELA_Human0.98820536
78MEIS1_20887958_ChIP-Seq_HPC-7_Mouse0.98457197
79PPARG_19300518_ChIP-PET_3T3-L1_Mouse0.98227423
80ZFX_18555785_ChIP-Seq_MESCs_Mouse0.97900431
81FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse0.97635186
82UTX_26944678_Chip-Seq_JUKART_Human0.96354445
83SPI1_23547873_ChIP-Seq_NB4_Human0.95568694
84GFI1B_20887958_ChIP-Seq_HPC-7_Mouse0.95523231
85CTCF_27219007_Chip-Seq_ERYTHROID_Human0.94856673
86YY1_21170310_ChIP-Seq_MESCs_Mouse0.93886369
87CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse0.92794102
88CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.91515180
89ELF1_20517297_ChIP-Seq_JURKAT_Human0.91000521
90ETS1_22383799_ChIP-Seq_G1ME_Mouse0.90474324
91FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human0.90119920
92MYB_26560356_Chip-Seq_TH1_Human0.89058908
93CREM_20920259_ChIP-Seq_GC1-SPG_Mouse0.88425929
94TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse0.87770962
95CEBPB_23403033_ChIP-Seq_LIVER_Mouse0.87372336
96E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse0.87227979
97ZFP42_18358816_ChIP-ChIP_MESCs_Mouse0.86534443
98STAT4_19710469_ChIP-ChIP_TH1__Mouse0.85410454
99KDM2B_26808549_Chip-Seq_HPB-ALL_Human0.85037615
100TCF7_22412390_ChIP-Seq_EML_Mouse0.84867453

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003656_abnormal_erythrocyte_physiolo7.65160616
2MP0005083_abnormal_biliary_tract4.87694070
3MP0008995_early_reproductive_senescence3.83736450
4MP0005397_hematopoietic_system_phenotyp3.18176032
5MP0001545_abnormal_hematopoietic_system3.18176032
6MP0003111_abnormal_nucleus_morphology2.36188282
7MP0004957_abnormal_blastocyst_morpholog2.10744343
8MP0003786_premature_aging2.05056547
9MP0008058_abnormal_DNA_repair2.02590869
10MP0002132_abnormal_respiratory_system2.01744545
11MP0004147_increased_porphyrin_level10.9175760
12MP0005451_abnormal_body_composition1.93191519
13MP0009278_abnormal_bone_marrow1.90103018
14MP0003186_abnormal_redox_activity1.86605021
15MP0009697_abnormal_copulation1.84037011
16MP0005636_abnormal_mineral_homeostasis1.83508082
17MP0004145_abnormal_muscle_electrophysio1.80869077
18MP0010094_abnormal_chromosome_stability1.77084611
19MP0002396_abnormal_hematopoietic_system1.73599467
20MP0005377_hearing/vestibular/ear_phenot1.57274502
21MP0003878_abnormal_ear_physiology1.57274502
22MP0006036_abnormal_mitochondrial_physio1.50392896
23MP0003077_abnormal_cell_cycle1.42431749
24MP0003806_abnormal_nucleotide_metabolis1.32639335
25MP0003693_abnormal_embryo_hatching1.29965608
26MP0000372_irregular_coat_pigmentation1.29225932
27MP0001661_extended_life_span1.27932641
28MP0006035_abnormal_mitochondrial_morpho1.27024645
29MP0005464_abnormal_platelet_physiology1.25476618
30MP0010307_abnormal_tumor_latency1.25260270
31MP0000313_abnormal_cell_death1.23848583
32MP0002398_abnormal_bone_marrow1.22582258
33MP0004808_abnormal_hematopoietic_stem1.20751952
34MP0002722_abnormal_immune_system1.19690246
35MP0003303_peritoneal_inflammation1.17746996
36MP0008057_abnormal_DNA_replication1.17743413
37MP0008775_abnormal_heart_ventricle1.07545044
38MP0000689_abnormal_spleen_morphology1.06859611
39MP0002095_abnormal_skin_pigmentation1.06203954
40MP0008260_abnormal_autophagy1.05137803
41MP0009931_abnormal_skin_appearance1.03138393
42MP0000703_abnormal_thymus_morphology1.01680726
43MP0000678_abnormal_parathyroid_gland0.97504009
44MP0001730_embryonic_growth_arrest0.96514036
45MP0002086_abnormal_extraembryonic_tissu0.95191002
46MP0001529_abnormal_vocalization0.93001142
47MP0001697_abnormal_embryo_size0.91574765
48MP0002080_prenatal_lethality0.90934642
49MP0000015_abnormal_ear_pigmentation0.90679280
50MP0003123_paternal_imprinting0.90162045
51MP0000350_abnormal_cell_proliferation0.88616258
52MP0005171_absent_coat_pigmentation0.88251838
53MP0002429_abnormal_blood_cell0.87178443
54MP0009333_abnormal_splenocyte_physiolog0.87160373
55MP0000609_abnormal_liver_physiology0.83469014
56MP0001929_abnormal_gametogenesis0.81671002
57MP0008932_abnormal_embryonic_tissue0.81602272
58MP0002210_abnormal_sex_determination0.80570222
59MP0002019_abnormal_tumor_incidence0.78683130
60MP0004885_abnormal_endolymph0.78155766
61MP0003984_embryonic_growth_retardation0.77900306
62MP0005076_abnormal_cell_differentiation0.76323935
63MP0005380_embryogenesis_phenotype0.75949042
64MP0001672_abnormal_embryogenesis/_devel0.75949042
65MP0009765_abnormal_xenobiotic_induced0.75306815
66MP0002088_abnormal_embryonic_growth/wei0.73972015
67MP0003718_maternal_effect0.72605503
68MP0008007_abnormal_cellular_replicative0.67246721
69MP0003959_abnormal_lean_body0.66883722
70MP0005075_abnormal_melanosome_morpholog0.62310960
71MP0000343_altered_response_to0.61488461
72MP0003191_abnormal_cellular_cholesterol0.60455020
73MP0003698_abnormal_male_reproductive0.60387295
74MP0000598_abnormal_liver_morphology0.57783508
75MP0003699_abnormal_female_reproductive0.57663117
76MP0000358_abnormal_cell_content/0.57205210
77MP0001727_abnormal_embryo_implantation0.55533901
78MP0003879_abnormal_hair_cell0.55231593
79MP0002009_preneoplasia0.53350268
80MP0003221_abnormal_cardiomyocyte_apopto0.51963221
81MP0009763_increased_sensitivity_to0.51115419
82MP0001145_abnormal_male_reproductive0.51079621
83MP0000749_muscle_degeneration0.50714242
84MP0000653_abnormal_sex_gland0.50581809
85MP0009764_decreased_sensitivity_to0.50018474
86MP0005220_abnormal_exocrine_pancreas0.49765785
87MP0001764_abnormal_homeostasis0.49765511
88MP0002405_respiratory_system_inflammati0.46741033
89MP0008770_decreased_survivor_rate0.46405520
90MP0000716_abnormal_immune_system0.44513580
91MP0001119_abnormal_female_reproductive0.44381739
92MP0005645_abnormal_hypothalamus_physiol0.43452520
93MP0008438_abnormal_cutaneous_collagen0.41252573
94MP0005025_abnormal_response_to0.40949870
95MP0003567_abnormal_fetal_cardiomyocyte0.40783336
96MP0003172_abnormal_lysosome_physiology0.40272777
97MP0005384_cellular_phenotype0.40205004
98MP0009703_decreased_birth_body0.39380569
99MP0000747_muscle_weakness0.38562631
100MP0005535_abnormal_body_temperature0.37620654

Predicted human phenotypes

RankGene SetZ-score
1* Abnormal hemoglobin (HP:0011902)9.44529387
2Poikilocytosis (HP:0004447)8.81460310
3* Reticulocytosis (HP:0001923)7.25693756
4Abnormal gallbladder physiology (HP:0012438)6.09403730
5Cholecystitis (HP:0001082)6.09403730
6Polycythemia (HP:0001901)5.76500256
7Acanthocytosis (HP:0001927)5.68259666
8Microcytic anemia (HP:0001935)5.56317455
9Hypochromic microcytic anemia (HP:0004840)5.54092757
10Cholelithiasis (HP:0001081)5.38469111
11* Abnormality of reticulocytes (HP:0004312)5.37296967
12Ileus (HP:0002595)4.98887648
13Abnormal gallbladder morphology (HP:0012437)4.82001315
14* Pallor (HP:0000980)4.46635895
15Hyperbilirubinemia (HP:0002904)4.36492950
16Paralysis (HP:0003470)4.27780538
17Hypertensive crisis (HP:0100735)3.73226911
18Diaphragmatic weakness (HP:0009113)3.72845972
19Abnormality of the gallbladder (HP:0005264)3.70958985
20Abnormal number of erythroid precursors (HP:0012131)3.63598449
21Hypochromic anemia (HP:0001931)3.57170594
22Abnormality of cells of the erythroid lineage (HP:0012130)3.42343508
23Truncus arteriosus (HP:0001660)3.31983146
24Homocystinuria (HP:0002156)3.13191745
25Abnormality of homocysteine metabolism (HP:0010919)3.13191745
26Hyperthyroidism (HP:0000836)3.12419669
27Hepatocellular carcinoma (HP:0001402)2.80181396
28Prolonged bleeding time (HP:0003010)2.79743076
29Nonimmune hydrops fetalis (HP:0001790)2.74150936
30Insomnia (HP:0100785)2.59598001
31Toxemia of pregnancy (HP:0100603)2.59327541
32Abnormality of the fingertips (HP:0001211)2.58651253
33Seborrheic dermatitis (HP:0001051)2.51042572
34Gastrointestinal infarctions (HP:0005244)2.47420782
35Nausea (HP:0002018)2.46947708
36Aplasia/Hypoplasia of the earlobes (HP:0009906)2.45009313
37Bowel incontinence (HP:0002607)2.39242109
38Hypoparathyroidism (HP:0000829)2.33729968
39Abnormal large intestine physiology (HP:0012700)2.31300794
40Birth length less than 3rd percentile (HP:0003561)2.27533387
41Chromosomal breakage induced by crosslinking agents (HP:0003221)2.27100514
42Abnormality of iron homeostasis (HP:0011031)2.24657913
43Osteomalacia (HP:0002749)2.21909406
44Abnormality of transition element cation homeostasis (HP:0011030)2.21465191
45Increased serum ferritin (HP:0003281)2.17058322
46Chromsome breakage (HP:0040012)2.16392653
47Cutaneous photosensitivity (HP:0000992)2.14291601
48Neoplasm of head and neck (HP:0012288)2.14143889
49Esophageal neoplasm (HP:0100751)2.14143889
50Gastrointestinal dysmotility (HP:0002579)2.02729582
51Abnormal platelet function (HP:0011869)2.02679894
52Impaired platelet aggregation (HP:0003540)2.02679894
53* Abnormality of the heme biosynthetic pathway (HP:0010472)13.1985001
54Abnormality of the tricuspid valve (HP:0001702)1.87390094
55Parkinsonism with favorable response to dopaminergic medication (HP:0002548)1.86428743
56Orthostatic hypotension (HP:0001278)1.85570949
57Rectal prolapse (HP:0002035)1.83629935
58Hyponatremia (HP:0002902)1.80549728
59Acute myeloid leukemia (HP:0004808)1.80545355
60Myelodysplasia (HP:0002863)1.79651356
61Ventricular fibrillation (HP:0001663)1.79469147
62Ankyloglossia (HP:0010296)1.77940262
63Petechiae (HP:0000967)1.75157929
64Obstructive lung disease (HP:0006536)1.73702510
65Chronic obstructive pulmonary disease (HP:0006510)1.73702510
66Metaphyseal cupping (HP:0003021)1.73259856
67Gonadal dysgenesis (HP:0000133)1.71820160
68Cerebral palsy (HP:0100021)1.68200098
69Short middle phalanx of the 5th finger (HP:0004220)1.66880601
70Albinism (HP:0001022)1.66170041
71Male infertility (HP:0003251)1.65753658
72Abnormality of cochlea (HP:0000375)1.64526695
73Peripheral hypomyelination (HP:0007182)1.63858758
74Neoplasm of the small intestine (HP:0100833)1.62013233
75Reticulocytopenia (HP:0001896)1.60503389
76Long clavicles (HP:0000890)1.58501572
77Tinnitus (HP:0000360)1.57971584
78Conjunctival hamartoma (HP:0100780)1.56960303
79Macrocytic anemia (HP:0001972)1.56210550
80Epistaxis (HP:0000421)1.54269919
81Acute encephalopathy (HP:0006846)1.54264711
82Atelectasis (HP:0100750)1.54063698
83Abnormality of the anterior horn cell (HP:0006802)1.53322415
84Degeneration of anterior horn cells (HP:0002398)1.53322415
85Sandal gap (HP:0001852)1.53219854
86Abnormality of sulfur amino acid metabolism (HP:0004339)1.50165269
87Neoplasm of the liver (HP:0002896)1.49850777
88Duplicated collecting system (HP:0000081)1.49411669
89Decreased number of large peripheral myelinated nerve fibers (HP:0003387)1.49070322
90Pustule (HP:0200039)1.48075770
91Progressive macrocephaly (HP:0004481)1.45310139
92Neoplasm of the rectum (HP:0100743)1.41343273
93Onycholysis (HP:0001806)1.41042121
94Abnormality of the renal collecting system (HP:0004742)1.40426080
95Osteomyelitis (HP:0002754)1.40344681
96Cafe-au-lait spot (HP:0000957)1.40040714
97Acute necrotizing encephalopathy (HP:0006965)1.39401319
98Abnormal mitochondria in muscle tissue (HP:0008316)1.36851513
99Spontaneous hematomas (HP:0007420)1.35945714
100Abnormality of nail color (HP:0100643)1.35533491

Predicted kinase interactions (KEA)

RankGene SetZ-score
1EIF2AK16.64553560
2RIPK44.08637762
3CLK13.44115799
4PRPF4B2.93015292
5KSR22.50945277
6CCNB12.47570156
7MAP2K32.34697100
8BMX2.14003346
9CDC72.04449712
10TTK2.02243481
11STK42.01622807
12TAOK21.89940883
13SCYL21.78420176
14EEF2K1.72072461
15AKT31.70069148
16MAP3K21.64624565
17BMPR21.59738499
18RAF11.58240868
19PIM11.57215055
20PLK41.51638492
21MAP3K81.49526408
22DYRK31.46559492
23TRPM71.45759240
24BRAF1.36846886
25WEE11.27437031
26RPS6KA51.26203882
27JAK21.26183537
28KSR11.25845187
29TAOK11.25594909
30NME11.22608576
31ICK1.21971817
32CDK121.15874933
33MAP3K101.15591693
34NTRK31.13797753
35MARK31.13696931
36BRSK21.10807637
37CHEK21.10194302
38MST41.04906038
39MAP3K10.99965316
40MAP2K10.99812938
41GRK60.97662491
42ZAK0.97542007
43BTK0.96978286
44MAP3K60.94050672
45BUB10.93515208
46MAP3K110.92792248
47JAK30.91867116
48PLK30.82380571
49MAPK120.79606748
50RPS6KB20.78065618
51IRAK30.74431814
52SYK0.72379604
53TYK20.71860126
54BRSK10.70081999
55IRAK40.67455636
56TSSK60.62085960
57RET0.61976729
58PDK20.61835530
59CHEK10.61187567
60TEC0.60612725
61TNK20.59608866
62WNK10.59134556
63RPS6KL10.57648302
64RPS6KC10.57648302
65SGK10.57508695
66MATK0.57027909
67NEK20.56087653
68TRIB30.55647556
69ATM0.54910538
70PTK60.54603144
71SRPK10.54456062
72MAP3K40.54390886
73ATR0.54274677
74RPS6KA40.53080487
75TLK10.52965061
76PLK10.52110125
77MAP3K70.50932367
78TAOK30.49795909
79RPS6KA60.49297241
80NME20.47927621
81ILK0.47400923
82CDK20.46488182
83MAP3K30.46334217
84NEK10.46198860
85PAK10.45437199
86CDK10.44827628
87CDK40.44100571
88MAP4K10.43780299
89MAP3K50.43053403
90AURKB0.42125390
91LYN0.42119136
92HCK0.40767459
93AKT10.39513377
94PRKAA20.38616934
95CSNK2A20.37933862
96HIPK20.37125900
97SGK30.36883942
98MAP2K40.36572249
99SMG10.36470931
100VRK10.35576044

Predicted pathways (KEGG)

RankGene SetZ-score
1Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008605.11770006
2Butirosin and neomycin biosynthesis_Homo sapiens_hsa005244.62940385
3DNA replication_Homo sapiens_hsa030303.21407101
4One carbon pool by folate_Homo sapiens_hsa006702.83943364
5Mismatch repair_Homo sapiens_hsa034302.74176179
6Ribosome_Homo sapiens_hsa030102.62753449
7Malaria_Homo sapiens_hsa051442.41668215
8Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009702.26236282
9Homologous recombination_Homo sapiens_hsa034402.21440886
10Acute myeloid leukemia_Homo sapiens_hsa052212.08098751
11Cell cycle_Homo sapiens_hsa041101.98904408
12Nucleotide excision repair_Homo sapiens_hsa034201.83509419
13Spliceosome_Homo sapiens_hsa030401.76929820
14Chronic myeloid leukemia_Homo sapiens_hsa052201.73537068
15Non-small cell lung cancer_Homo sapiens_hsa052231.73237951
16Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.71671699
17Oxidative phosphorylation_Homo sapiens_hsa001901.59788112
18Parkinsons disease_Homo sapiens_hsa050121.57327697
19Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.55324816
20Fanconi anemia pathway_Homo sapiens_hsa034601.45551184
21Systemic lupus erythematosus_Homo sapiens_hsa053221.40603214
22RNA transport_Homo sapiens_hsa030131.37287678
23Pancreatic cancer_Homo sapiens_hsa052121.36256392
24Progesterone-mediated oocyte maturation_Homo sapiens_hsa049141.34302123
25Pyruvate metabolism_Homo sapiens_hsa006201.24724806
26Alcoholism_Homo sapiens_hsa050341.24609915
27Viral carcinogenesis_Homo sapiens_hsa052031.17874731
28Huntingtons disease_Homo sapiens_hsa050161.12265923
29mRNA surveillance pathway_Homo sapiens_hsa030151.11482586
30Renal cell carcinoma_Homo sapiens_hsa052111.10698794
31Base excision repair_Homo sapiens_hsa034101.09477979
32mTOR signaling pathway_Homo sapiens_hsa041501.08723425
33Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.06816037
34Carbon metabolism_Homo sapiens_hsa012001.05696324
35SNARE interactions in vesicular transport_Homo sapiens_hsa041301.05533049
36Proteasome_Homo sapiens_hsa030501.05181486
37Basal transcription factors_Homo sapiens_hsa030221.03020467
38Type II diabetes mellitus_Homo sapiens_hsa049301.01370422
39B cell receptor signaling pathway_Homo sapiens_hsa046621.01253100
40Thyroid cancer_Homo sapiens_hsa052161.01037607
41HIF-1 signaling pathway_Homo sapiens_hsa040660.96494077
42Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.94086561
43Collecting duct acid secretion_Homo sapiens_hsa049660.92849362
44Adipocytokine signaling pathway_Homo sapiens_hsa049200.91543228
45Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.83809195
46Bladder cancer_Homo sapiens_hsa052190.83141945
47Olfactory transduction_Homo sapiens_hsa047400.83128979
48Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.81737843
49Carbohydrate digestion and absorption_Homo sapiens_hsa049730.79716552
50Transcriptional misregulation in cancer_Homo sapiens_hsa052020.79600728
51Non-homologous end-joining_Homo sapiens_hsa034500.73865891
52Jak-STAT signaling pathway_Homo sapiens_hsa046300.73606812
53RNA polymerase_Homo sapiens_hsa030200.71686779
54Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.71088543
55Glioma_Homo sapiens_hsa052140.69725602
56Fructose and mannose metabolism_Homo sapiens_hsa000510.69631785
57Prolactin signaling pathway_Homo sapiens_hsa049170.69016130
58VEGF signaling pathway_Homo sapiens_hsa043700.69015753
59Alzheimers disease_Homo sapiens_hsa050100.67866706
60African trypanosomiasis_Homo sapiens_hsa051430.66201941
61Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.66083271
62Central carbon metabolism in cancer_Homo sapiens_hsa052300.65643122
63Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.65198228
64Oocyte meiosis_Homo sapiens_hsa041140.64428323
65Mineral absorption_Homo sapiens_hsa049780.63777193
66Biosynthesis of amino acids_Homo sapiens_hsa012300.63707943
67Hepatitis B_Homo sapiens_hsa051610.62763442
68Nitrogen metabolism_Homo sapiens_hsa009100.62480332
69Pyrimidine metabolism_Homo sapiens_hsa002400.62320400
70Hematopoietic cell lineage_Homo sapiens_hsa046400.61949006
71Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.61623193
72Measles_Homo sapiens_hsa051620.59854912
73Regulation of autophagy_Homo sapiens_hsa041400.59283183
74Epstein-Barr virus infection_Homo sapiens_hsa051690.58566113
75ABC transporters_Homo sapiens_hsa020100.58172574
76Endometrial cancer_Homo sapiens_hsa052130.57941570
77Insulin signaling pathway_Homo sapiens_hsa049100.57898086
78Purine metabolism_Homo sapiens_hsa002300.57806596
79Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.57449483
80RNA degradation_Homo sapiens_hsa030180.55925653
81Steroid biosynthesis_Homo sapiens_hsa001000.55198300
82AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.55108028
83Apoptosis_Homo sapiens_hsa042100.54644324
84Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.54413842
85Glycerophospholipid metabolism_Homo sapiens_hsa005640.53677263
86Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.53664367
87NOD-like receptor signaling pathway_Homo sapiens_hsa046210.52156054
88ErbB signaling pathway_Homo sapiens_hsa040120.51626137
89Glutathione metabolism_Homo sapiens_hsa004800.48161493
90AMPK signaling pathway_Homo sapiens_hsa041520.47156446
91Pentose phosphate pathway_Homo sapiens_hsa000300.44237007
92FoxO signaling pathway_Homo sapiens_hsa040680.43844802
93Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.38630013
94Herpes simplex infection_Homo sapiens_hsa051680.37845896
95Prostate cancer_Homo sapiens_hsa052150.36852958
96Choline metabolism in cancer_Homo sapiens_hsa052310.36824550
97Osteoclast differentiation_Homo sapiens_hsa043800.35130242
98Influenza A_Homo sapiens_hsa051640.33573017
99Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.33443278
100HTLV-I infection_Homo sapiens_hsa051660.33240798

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