HBG1

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)9.31591458
2porphyrin-containing compound biosynthetic process (GO:0006779)8.59861121
3heme biosynthetic process (GO:0006783)7.69432326
4tetrapyrrole biosynthetic process (GO:0033014)7.67480463
5porphyrin-containing compound metabolic process (GO:0006778)7.60858853
6erythrocyte development (GO:0048821)7.46604121
7heme metabolic process (GO:0042168)6.88173049
8hemoglobin metabolic process (GO:0020027)6.40480832
9tetrapyrrole metabolic process (GO:0033013)4.79475225
10granulocyte differentiation (GO:0030851)4.78131290
11myeloid cell development (GO:0061515)4.75527058
12one-carbon compound transport (GO:0019755)4.60322917
13homocysteine metabolic process (GO:0050667)4.53639745
14negative regulation of erythrocyte differentiation (GO:0045647)4.40818287
15regulation of response to osmotic stress (GO:0047484)4.35047399
16protein-cofactor linkage (GO:0018065)4.21394409
17definitive hemopoiesis (GO:0060216)4.09251140
18DNA replication checkpoint (GO:0000076)3.99868860
19regulation of RNA export from nucleus (GO:0046831)3.82672264
20pigment biosynthetic process (GO:0046148)3.80533641
21proline biosynthetic process (GO:0006561)3.80008613
22nuclear pore complex assembly (GO:0051292)3.75469321
23positive regulation of megakaryocyte differentiation (GO:0045654)3.61566135
24ATP synthesis coupled proton transport (GO:0015986)3.51772980
25energy coupled proton transport, down electrochemical gradient (GO:0015985)3.51772980
26pigment metabolic process (GO:0042440)3.46570865
27iron ion import (GO:0097286)3.45201303
28response to methylmercury (GO:0051597)3.41648808
29regulation of erythrocyte differentiation (GO:0045646)3.36609645
30S-adenosylmethionine metabolic process (GO:0046500)3.36407095
31nuclear pore organization (GO:0006999)3.32479205
32positive regulation of granulocyte differentiation (GO:0030854)3.31675195
33erythrocyte differentiation (GO:0030218)3.30034353
34regulation of nucleobase-containing compound transport (GO:0032239)3.29452704
35mitochondrial ATP synthesis coupled proton transport (GO:0042776)3.27167049
36positive regulation of erythrocyte differentiation (GO:0045648)3.26290674
37DNA topological change (GO:0006265)3.25199307
38regulation of translational fidelity (GO:0006450)3.23104096
39regulation of histone H3-K4 methylation (GO:0051569)3.19185818
40platelet formation (GO:0030220)3.19059483
41DNA replication initiation (GO:0006270)3.12462136
42deoxyribonucleoside monophosphate metabolic process (GO:0009162)3.10951428
43proteasome assembly (GO:0043248)3.09149747
44DNA unwinding involved in DNA replication (GO:0006268)3.08908555
45autophagic vacuole fusion (GO:0000046)3.04390258
462-deoxyribonucleotide biosynthetic process (GO:0009265)3.04032475
47deoxyribose phosphate biosynthetic process (GO:0046385)3.04032475
48mitotic nuclear envelope disassembly (GO:0007077)3.00219417
49hematopoietic stem cell differentiation (GO:0060218)2.99339460
50tetrahydrofolate metabolic process (GO:0046653)2.97668905
51cellular protein catabolic process (GO:0044257)2.97642388
52viral transcription (GO:0019083)2.94710056
53mitotic sister chromatid segregation (GO:0000070)2.92812040
54glycine transport (GO:0015816)2.92796531
55folic acid metabolic process (GO:0046655)2.92288032
56embryonic hemopoiesis (GO:0035162)2.92124649
57positive regulation of hematopoietic progenitor cell differentiation (GO:1901534)2.91611464
58megakaryocyte development (GO:0035855)2.91127998
59DNA strand elongation involved in DNA replication (GO:0006271)2.90651023
60translational termination (GO:0006415)2.90080643
61diterpenoid biosynthetic process (GO:0016102)2.86317928
62DNA strand elongation (GO:0022616)2.83793113
63response to insecticide (GO:0017085)2.83590721
64regulation of histone H3-K27 methylation (GO:0061085)2.82245108
65regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)2.81714220
66organelle membrane fusion (GO:0090174)2.81124761
67membrane disassembly (GO:0030397)2.80795895
68nuclear envelope disassembly (GO:0051081)2.80795895
69synapsis (GO:0007129)2.80383198
70regulation of mitotic spindle organization (GO:0060236)2.76015391
71response to lead ion (GO:0010288)2.75227240
72negative regulation of fatty acid biosynthetic process (GO:0045717)2.74246305
73sister chromatid segregation (GO:0000819)2.73667410
74ribosomal small subunit assembly (GO:0000028)2.72654068
75mitotic chromosome condensation (GO:0007076)2.70803251
76pore complex assembly (GO:0046931)2.70014820
77deoxyribonucleotide biosynthetic process (GO:0009263)2.66084146
78modulation by virus of host process (GO:0019054)2.64451552
79formation of translation preinitiation complex (GO:0001731)2.58598379
80ATP biosynthetic process (GO:0006754)2.58144750
81deoxyribonucleoside diphosphate metabolic process (GO:0009186)2.54440933
82telomere maintenance via semi-conservative replication (GO:0032201)2.54112384
83ribosomal large subunit biogenesis (GO:0042273)2.53934979
84regulation of histone H3-K9 methylation (GO:0051570)2.52285348
85oxidative phosphorylation (GO:0006119)2.51077779
86mucosal-associated lymphoid tissue development (GO:0048537)2.50938419
87Peyers patch development (GO:0048541)2.50938419
88cellular response to thyroid hormone stimulus (GO:0097067)2.50796925
89translational elongation (GO:0006414)2.48134591
90positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S tr2.47234603
91kinetochore organization (GO:0051383)2.47089978
92meiotic chromosome segregation (GO:0045132)2.45538334
93response to oxygen radical (GO:0000305)2.45145575
94removal of superoxide radicals (GO:0019430)2.44263422
95cellular response to superoxide (GO:0071451)2.44263422
96cellular response to oxygen radical (GO:0071450)2.44263422
97* oxygen transport (GO:0015671)14.7304733
98* gas transport (GO:0015669)13.8303210
99protoporphyrinogen IX metabolic process (GO:0046501)12.7053776
100protoporphyrinogen IX biosynthetic process (GO:0006782)11.3461151

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human8.27604417
2GATA1_22025678_ChIP-Seq_K562_Human5.42234522
3GATA1_19941826_ChIP-Seq_K562_Human4.79739789
4EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse4.44480352
5FOXM1_23109430_ChIP-Seq_U2OS_Human3.44374251
6GATA2_19941826_ChIP-Seq_K562_Human3.06384005
7HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.94621825
8E2F4_17652178_ChIP-ChIP_JURKAT_Human2.90826700
9KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.77366626
10* NCOR1_26117541_ChIP-Seq_K562_Human2.76003514
11EGR1_19374776_ChIP-ChIP_THP-1_Human2.67374608
12MYC_18555785_ChIP-Seq_MESCs_Mouse2.53063018
13EST1_17652178_ChIP-ChIP_JURKAT_Human2.47031245
14FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.28511941
15ELF1_17652178_ChIP-ChIP_JURKAT_Human2.25439104
16ETS1_20019798_ChIP-Seq_JURKAT_Human2.23246854
17SCL_19346495_ChIP-Seq_HPC-7_Human2.22895787
18THAP11_20581084_ChIP-Seq_MESCs_Mouse2.15317752
19JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.11348140
20GABP_17652178_ChIP-ChIP_JURKAT_Human2.08571859
21MYC_18358816_ChIP-ChIP_MESCs_Mouse2.08418428
22CREB1_15753290_ChIP-ChIP_HEK293T_Human2.00860141
23SOX9_22984422_ChIP-ChIP_TESTIS_Rat2.00715146
24XRN2_22483619_ChIP-Seq_HELA_Human1.97834102
25TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.96692963
26ZNF263_19887448_ChIP-Seq_K562_Human1.82573924
27CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.81166843
28DCP1A_22483619_ChIP-Seq_HELA_Human1.79474832
29MYC_19079543_ChIP-ChIP_MESCs_Mouse1.78179356
30SRF_21415370_ChIP-Seq_HL-1_Mouse1.77862888
31MYC_19030024_ChIP-ChIP_MESCs_Mouse1.74940018
32PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.73170104
33FOXP3_21729870_ChIP-Seq_TREG_Human1.70546328
34TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.58837829
35GATA1_22383799_ChIP-Seq_G1ME_Mouse1.51813871
36VDR_23849224_ChIP-Seq_CD4+_Human1.49045004
37NELFA_20434984_ChIP-Seq_ESCs_Mouse1.48665832
38HOXB4_20404135_ChIP-ChIP_EML_Mouse1.45997389
39MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.41566042
40E2F1_18555785_ChIP-Seq_MESCs_Mouse1.41221324
41TTF2_22483619_ChIP-Seq_HELA_Human1.39933171
42CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.38823706
43GATA1_19941827_ChIP-Seq_MEL_Mouse1.38028846
44KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse1.35824210
45POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.35126233
46KDM5A_27292631_Chip-Seq_BREAST_Human1.33777052
47SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.32787299
48BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.32738686
49MYC_22102868_ChIP-Seq_BL_Human1.28155824
50CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.25179330
51PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.24876675
52E2F1_21310950_ChIP-Seq_MCF-7_Human1.24802496
53GABP_19822575_ChIP-Seq_HepG2_Human1.24522822
54ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.22595110
55MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.21911968
56SPI1_23127762_ChIP-Seq_K562_Human1.21191936
57ELK1_19687146_ChIP-ChIP_HELA_Human1.20418334
58MYCN_18555785_ChIP-Seq_MESCs_Mouse1.19683486
59TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.19554690
60YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.19433117
61AR_21909140_ChIP-Seq_LNCAP_Human1.19264249
62CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.18989760
63FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.16722664
64E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.12889605
65PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.12750832
66YY1_21170310_ChIP-Seq_MESCs_Mouse1.12245169
67TFEB_21752829_ChIP-Seq_HELA_Human1.10758658
68TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.10698249
69FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.08721418
70CIITA_25753668_ChIP-Seq_RAJI_Human1.05613276
71HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.03495725
72ZFX_18555785_ChIP-Seq_MESCs_Mouse1.03237756
73ERG_20887958_ChIP-Seq_HPC-7_Mouse1.02532042
74MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.01976599
75STAT3_1855785_ChIP-Seq_MESCs_Mouse1.01887210
76CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse1.01768403
77GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.01323351
78ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.00340653
79SFPI1_20887958_ChIP-Seq_HPC-7_Mouse0.96975971
80ZFP42_18358816_ChIP-ChIP_MESCs_Mouse0.94808256
81CEBPB_23403033_ChIP-Seq_LIVER_Mouse0.94465806
82CTCF_27219007_Chip-Seq_ERYTHROID_Human0.93490092
83MAF_26560356_Chip-Seq_TH1_Human0.92949025
84VDR_21846776_ChIP-Seq_THP-1_Human0.92654244
85CREM_20920259_ChIP-Seq_GC1-SPG_Mouse0.92235052
86NOTCH1_17114293_ChIP-ChIP_T-ALL_Human0.91883081
87ELF1_20517297_ChIP-Seq_JURKAT_Human0.91524450
88CEBPA_23403033_ChIP-Seq_LIVER_Mouse0.91489617
89PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse0.91001122
90FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human0.89424608
91GFI1B_20887958_ChIP-Seq_HPC-7_Mouse0.89241008
92KLF4_18555785_ChIP-Seq_MESCs_Mouse0.88553054
93* CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.87410916
94TBX5_21415370_ChIP-Seq_HL-1_Mouse0.87318090
95GATA2_22383799_ChIP-Seq_G1ME_Mouse0.87302858
96SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.86788304
97CHD1_26751641_Chip-Seq_LNCaP_Human0.86624349
98MEIS1_20887958_ChIP-Seq_HPC-7_Mouse0.84116358
99SALL4_22934838_ChIP-ChIP_CD34+_Human0.82623917
100CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human0.81466283

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003656_abnormal_erythrocyte_physiolo7.31684453
2MP0005083_abnormal_biliary_tract4.53667257
3MP0008995_early_reproductive_senescence3.50423639
4MP0005397_hematopoietic_system_phenotyp3.33282938
5MP0001545_abnormal_hematopoietic_system3.33282938
6MP0005377_hearing/vestibular/ear_phenot2.88881595
7MP0003878_abnormal_ear_physiology2.88881595
8MP0003111_abnormal_nucleus_morphology2.52829424
9MP0004957_abnormal_blastocyst_morpholog2.40773149
10MP0008058_abnormal_DNA_repair2.24668618
11MP0003186_abnormal_redox_activity2.24469091
12MP0002132_abnormal_respiratory_system2.19287981
13MP0009697_abnormal_copulation2.11098296
14MP0003786_premature_aging2.04239205
15MP0004147_increased_porphyrin_level10.7341366
16MP0009278_abnormal_bone_marrow1.94228578
17MP0000015_abnormal_ear_pigmentation1.93805436
18MP0005636_abnormal_mineral_homeostasis1.91813902
19MP0010094_abnormal_chromosome_stability1.79749977
20MP0003806_abnormal_nucleotide_metabolis1.78142524
21MP0006036_abnormal_mitochondrial_physio1.73807485
22MP0004145_abnormal_muscle_electrophysio1.67256676
23MP0000372_irregular_coat_pigmentation1.60129945
24MP0003693_abnormal_embryo_hatching1.59694479
25MP0004885_abnormal_endolymph1.59656455
26MP0003077_abnormal_cell_cycle1.44887345
27MP0005451_abnormal_body_composition1.43363098
28MP0002095_abnormal_skin_pigmentation1.41037377
29MP0006035_abnormal_mitochondrial_morpho1.28714703
30MP0000313_abnormal_cell_death1.25502070
31MP0001529_abnormal_vocalization1.24625443
32MP0010307_abnormal_tumor_latency1.11617501
33MP0008775_abnormal_heart_ventricle1.10334655
34MP0003303_peritoneal_inflammation1.09405319
35MP0004808_abnormal_hematopoietic_stem1.08071881
36MP0008932_abnormal_embryonic_tissue1.03336678
37MP0005464_abnormal_platelet_physiology1.02789127
38MP0002396_abnormal_hematopoietic_system1.00375745
39MP0003718_maternal_effect0.99358293
40MP0003879_abnormal_hair_cell0.96490740
41MP0008007_abnormal_cellular_replicative0.95642945
42MP0001697_abnormal_embryo_size0.94764746
43MP0005075_abnormal_melanosome_morpholog0.94370958
44MP0001730_embryonic_growth_arrest0.94088978
45MP0002398_abnormal_bone_marrow0.93434967
46MP0005171_absent_coat_pigmentation0.92940175
47MP0002722_abnormal_immune_system0.92906585
48MP0000350_abnormal_cell_proliferation0.91666817
49MP0002080_prenatal_lethality0.90698640
50MP0009931_abnormal_skin_appearance0.90554663
51MP0000678_abnormal_parathyroid_gland0.89822979
52MP0002086_abnormal_extraembryonic_tissu0.85859928
53MP0003984_embryonic_growth_retardation0.83767806
54MP0005076_abnormal_cell_differentiation0.83426172
55MP0005380_embryogenesis_phenotype0.80032468
56MP0001672_abnormal_embryogenesis/_devel0.80032468
57MP0002088_abnormal_embryonic_growth/wei0.79203595
58MP0001764_abnormal_homeostasis0.79112420
59MP0000689_abnormal_spleen_morphology0.78449703
60MP0008057_abnormal_DNA_replication0.77425652
61MP0000609_abnormal_liver_physiology0.75252588
62MP0001661_extended_life_span0.74250627
63MP0000703_abnormal_thymus_morphology0.72579991
64MP0009333_abnormal_splenocyte_physiolog0.71971804
65MP0002210_abnormal_sex_determination0.71782046
66MP0002019_abnormal_tumor_incidence0.71591752
67MP0001929_abnormal_gametogenesis0.71262884
68MP0002429_abnormal_blood_cell0.67995980
69MP0009765_abnormal_xenobiotic_induced0.65490652
70MP0008260_abnormal_autophagy0.64302681
71MP0003959_abnormal_lean_body0.64146935
72MP0001727_abnormal_embryo_implantation0.63868399
73MP0000343_altered_response_to0.63051645
74MP0005645_abnormal_hypothalamus_physiol0.63043794
75MP0000358_abnormal_cell_content/0.59294746
76MP0000749_muscle_degeneration0.58074493
77MP0000371_diluted_coat_color0.57372668
78MP0001881_abnormal_mammary_gland0.56430613
79MP0003698_abnormal_male_reproductive0.56376176
80MP0000598_abnormal_liver_morphology0.56246179
81MP0008770_decreased_survivor_rate0.55211730
82MP0008872_abnormal_physiological_respon0.50163944
83MP0003699_abnormal_female_reproductive0.49800707
84MP0003221_abnormal_cardiomyocyte_apopto0.44965259
85MP0003172_abnormal_lysosome_physiology0.43357424
86MP0004233_abnormal_muscle_weight0.43077893
87MP0005220_abnormal_exocrine_pancreas0.42830686
88MP0004142_abnormal_muscle_tone0.41909402
89MP0001188_hyperpigmentation0.41745996
90MP0000653_abnormal_sex_gland0.40729921
91MP0002269_muscular_atrophy0.39063784
92MP0002161_abnormal_fertility/fecundity0.38128322
93MP0003567_abnormal_fetal_cardiomyocyte0.37655736
94MP0005332_abnormal_amino_acid0.37487277
95MP0002084_abnormal_developmental_patter0.36979223
96MP0001119_abnormal_female_reproductive0.36464552
97MP0002083_premature_death0.36009107
98MP0009763_increased_sensitivity_to0.35375067
99MP0001145_abnormal_male_reproductive0.35363586
100MP0002822_catalepsy0.34728697

Predicted human phenotypes

RankGene SetZ-score
1* Abnormal hemoglobin (HP:0011902)9.70268976
2Reticulocytosis (HP:0001923)9.47384144
3Poikilocytosis (HP:0004447)8.10001367
4Abnormality of reticulocytes (HP:0004312)7.00554170
5Acanthocytosis (HP:0001927)5.58437249
6Polycythemia (HP:0001901)5.28506429
7Cholecystitis (HP:0001082)5.28096216
8Abnormal gallbladder physiology (HP:0012438)5.28096216
9Ileus (HP:0002595)5.00781534
10Cholelithiasis (HP:0001081)4.89599418
11Hypochromic microcytic anemia (HP:0004840)4.89382557
12* Pallor (HP:0000980)4.49493355
13Abnormal gallbladder morphology (HP:0012437)4.39308475
14Paralysis (HP:0003470)4.15476152
15Hyperbilirubinemia (HP:0002904)4.05996889
16Hypertensive crisis (HP:0100735)3.86538638
17Abnormality of homocysteine metabolism (HP:0010919)3.83037921
18Homocystinuria (HP:0002156)3.83037921
19Diaphragmatic weakness (HP:0009113)3.72080277
20Truncus arteriosus (HP:0001660)3.70823252
21Hyperthyroidism (HP:0000836)3.41386680
22Abnormality of the gallbladder (HP:0005264)3.41069321
23Abnormal number of erythroid precursors (HP:0012131)3.36007194
24Hypochromic anemia (HP:0001931)3.29853956
25Abnormality of cells of the erythroid lineage (HP:0012130)3.21510925
26* Microcytic anemia (HP:0001935)2.84174735
27Insomnia (HP:0100785)2.82336603
28Hepatocellular carcinoma (HP:0001402)2.80203664
29Nausea (HP:0002018)2.63567967
30Neoplasm of head and neck (HP:0012288)2.57525813
31Esophageal neoplasm (HP:0100751)2.57525813
32Acute encephalopathy (HP:0006846)2.55843655
33Albinism (HP:0001022)2.55718682
34Acute necrotizing encephalopathy (HP:0006965)2.51652888
35Seborrheic dermatitis (HP:0001051)2.51360923
36Birth length less than 3rd percentile (HP:0003561)2.47376103
37Bowel incontinence (HP:0002607)2.45668356
38Abnormality of the anterior horn cell (HP:0006802)2.41661934
39Degeneration of anterior horn cells (HP:0002398)2.41661934
40Abnormal mitochondria in muscle tissue (HP:0008316)2.40930226
41Aplasia/Hypoplasia of the earlobes (HP:0009906)2.39387979
42Abnormal large intestine physiology (HP:0012700)2.37803823
43Progressive macrocephaly (HP:0004481)2.37315152
44Chromosomal breakage induced by crosslinking agents (HP:0003221)2.32703126
45Gastrointestinal infarctions (HP:0005244)2.30626125
46Hypoparathyroidism (HP:0000829)2.30217697
47Abnormality of the fingertips (HP:0001211)2.26437734
48Impaired platelet aggregation (HP:0003540)2.25499214
49Abnormal platelet function (HP:0011869)2.25499214
50Nonimmune hydrops fetalis (HP:0001790)2.22163041
51Chromsome breakage (HP:0040012)2.18137173
52Toxemia of pregnancy (HP:0100603)2.10918753
53Short middle phalanx of the 5th finger (HP:0004220)2.08996668
54Prolonged bleeding time (HP:0003010)2.07043858
55Cutaneous photosensitivity (HP:0000992)2.06640063
56Rectal prolapse (HP:0002035)2.04466681
57Abnormality of the tricuspid valve (HP:0001702)2.01841779
58* Abnormality of the heme biosynthetic pathway (HP:0010472)13.1044882
59Abnormality of sulfur amino acid metabolism (HP:0004339)1.96454529
60Abnormality of nail color (HP:0100643)1.88961636
61Increased serum ferritin (HP:0003281)1.88821572
62Macrocytic anemia (HP:0001972)1.88715939
63Hyponatremia (HP:0002902)1.87644945
64Abnormality of iron homeostasis (HP:0011031)1.87346478
65Atelectasis (HP:0100750)1.86151619
66Onycholysis (HP:0001806)1.83467089
67Abnormality of transition element cation homeostasis (HP:0011030)1.83309916
68Reticulocytopenia (HP:0001896)1.79468669
69Gastrointestinal dysmotility (HP:0002579)1.77544933
70Exertional dyspnea (HP:0002875)1.71946478
71Ankyloglossia (HP:0010296)1.71943130
72Parkinsonism with favorable response to dopaminergic medication (HP:0002548)1.69723480
73Myelodysplasia (HP:0002863)1.69635307
74Increased intramyocellular lipid droplets (HP:0012240)1.65439082
75Abnormality of cochlea (HP:0000375)1.64714118
76Mitochondrial inheritance (HP:0001427)1.63324766
77Neoplasm of the small intestine (HP:0100833)1.63226928
78Tinnitus (HP:0000360)1.62427555
79Myopathic facies (HP:0002058)1.61782437
80Increased CSF lactate (HP:0002490)1.61367286
81Abnormal activity of mitochondrial respiratory chain (HP:0011922)1.59792198
82Decreased activity of mitochondrial respiratory chain (HP:0008972)1.59792198
83Increased muscle lipid content (HP:0009058)1.57978521
84Osteomalacia (HP:0002749)1.57919142
85Orthostatic hypotension (HP:0001278)1.56966288
86Neoplasm of the rectum (HP:0100743)1.56280757
87Cerebral palsy (HP:0100021)1.54996987
88Duplicated collecting system (HP:0000081)1.54655010
89Acute myeloid leukemia (HP:0004808)1.51672135
90Biliary tract neoplasm (HP:0100574)1.51132091
91Neoplasm of the liver (HP:0002896)1.49734642
92Petechiae (HP:0000967)1.48616936
93Palpitations (HP:0001962)1.47866071
94Abnormality of DNA repair (HP:0003254)1.47289985
95Gonadal dysgenesis (HP:0000133)1.44360151
96Respiratory difficulties (HP:0002880)1.43348669
97Small intestinal stenosis (HP:0012848)1.42043610
98Duodenal stenosis (HP:0100867)1.42043610
99Aplastic anemia (HP:0001915)1.41998418
100Cerebral edema (HP:0002181)1.41246022

Predicted kinase interactions (KEA)

RankGene SetZ-score
1EIF2AK17.78056915
2RIPK43.50159663
3CLK13.18015842
4KSR22.93192432
5CCNB12.55230082
6TTK2.41082834
7BMX2.27542020
8CDC72.17345332
9AKT32.11898885
10BMPR22.03859573
11MAP3K21.99127113
12PRPF4B1.92438983
13TRPM71.91448034
14STK41.88876735
15RAF11.79573596
16TAOK21.79516862
17PLK41.71071126
18DYRK31.65030922
19WEE11.63927047
20NME11.62566577
21NTRK31.61996119
22MAP2K31.55530005
23PDK21.53335348
24BRAF1.47574034
25PIM11.43418084
26MAP3K81.42819325
27KSR11.42786294
28BUB11.40759446
29MST41.38232918
30BRSK21.37462153
31NEK11.36100663
32RPS6KA51.35148120
33CHEK21.29124589
34EEF2K1.20499046
35SCYL21.16597544
36NME21.16261658
37MAP2K11.15793347
38IRAK31.15200608
39PLK31.08420949
40BRSK11.05704085
41JAK20.98800286
42ICK0.95524430
43JAK30.93150379
44ZAK0.91212723
45TSSK60.89125255
46MARK30.88762714
47MAP3K10.83072056
48CDK120.80195590
49SRPK10.79597186
50MAPK120.77685762
51PBK0.77408122
52NEK20.76273098
53MAP3K110.75991692
54WNK10.74056503
55TAOK10.73218644
56PLK10.69155701
57RET0.66969337
58CHEK10.64607537
59MAP3K100.63561494
60MAP3K50.59122172
61ATM0.58837476
62MAP3K40.58502161
63TAOK30.58103422
64SGK10.56298356
65ATR0.55693279
66ILK0.53421158
67RPS6KB20.53048151
68CAMK1D0.52405007
69BTK0.50900100
70GRK60.50494299
71SYK0.49241796
72RPS6KL10.49102282
73RPS6KC10.49102282
74AURKB0.48799109
75STK30.47897380
76RPS6KA40.47735351
77CSNK2A20.45284412
78PAK10.44962363
79MAP3K60.44889066
80CDK10.44248476
81RPS6KA60.42375647
82CSNK2A10.41371173
83CDK20.41309096
84DMPK0.34768249
85SGK30.33609763
86PRKAA10.33444049
87AKT10.31974585
88RPS6KB10.31436094
89PKN10.31383871
90CDK40.30588464
91VRK10.29828031
92MAPK30.29724837
93MAPK110.29037055
94TEC0.28047876
95PRKAA20.26629439
96PRKACG0.26083814
97IKBKB0.25836322
98AKT20.23252566
99HIPK20.22979297
100ABL20.22722960

Predicted pathways (KEGG)

RankGene SetZ-score
1Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008605.53220126
2Butirosin and neomycin biosynthesis_Homo sapiens_hsa005243.40900996
3One carbon pool by folate_Homo sapiens_hsa006703.30338995
4Ribosome_Homo sapiens_hsa030103.07351014
5DNA replication_Homo sapiens_hsa030302.98620936
6Mismatch repair_Homo sapiens_hsa034302.67014514
7Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009702.49250499
8Oxidative phosphorylation_Homo sapiens_hsa001902.47946871
9Parkinsons disease_Homo sapiens_hsa050122.32636072
10Proteasome_Homo sapiens_hsa030502.20505556
11Homologous recombination_Homo sapiens_hsa034402.16105552
12Malaria_Homo sapiens_hsa051442.14560900
13Cell cycle_Homo sapiens_hsa041101.89445770
14Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.87273225
15Nucleotide excision repair_Homo sapiens_hsa034201.86695918
16Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.86125469
17Spliceosome_Homo sapiens_hsa030401.75316199
18Huntingtons disease_Homo sapiens_hsa050161.68666628
19Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.61392018
20RNA transport_Homo sapiens_hsa030131.52455600
21Acute myeloid leukemia_Homo sapiens_hsa052211.50039541
22Non-small cell lung cancer_Homo sapiens_hsa052231.49138804
23Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.49111393
24Fanconi anemia pathway_Homo sapiens_hsa034601.46597140
25Pyruvate metabolism_Homo sapiens_hsa006201.43847397
26Chronic myeloid leukemia_Homo sapiens_hsa052201.38783241
27Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.35924167
28Basal transcription factors_Homo sapiens_hsa030221.30588314
29SNARE interactions in vesicular transport_Homo sapiens_hsa041301.27691249
30Carbon metabolism_Homo sapiens_hsa012001.27663587
31Progesterone-mediated oocyte maturation_Homo sapiens_hsa049141.24647350
32Base excision repair_Homo sapiens_hsa034101.21536662
33RNA polymerase_Homo sapiens_hsa030201.18574400
34Alzheimers disease_Homo sapiens_hsa050101.17483565
35Thyroid cancer_Homo sapiens_hsa052161.09287971
36Collecting duct acid secretion_Homo sapiens_hsa049661.08566523
37mRNA surveillance pathway_Homo sapiens_hsa030151.06682383
38Pancreatic cancer_Homo sapiens_hsa052121.01612992
39Olfactory transduction_Homo sapiens_hsa047401.00714301
40Biosynthesis of amino acids_Homo sapiens_hsa012300.97029147
41Mineral absorption_Homo sapiens_hsa049780.96371519
42mTOR signaling pathway_Homo sapiens_hsa041500.95549985
43Bladder cancer_Homo sapiens_hsa052190.93205273
44Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.88305413
45Adipocytokine signaling pathway_Homo sapiens_hsa049200.84194951
46Renal cell carcinoma_Homo sapiens_hsa052110.83117180
47Steroid biosynthesis_Homo sapiens_hsa001000.78972364
48Pyrimidine metabolism_Homo sapiens_hsa002400.77364134
49HIF-1 signaling pathway_Homo sapiens_hsa040660.73454710
50Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.73093675
51Cardiac muscle contraction_Homo sapiens_hsa042600.72776412
52Viral carcinogenesis_Homo sapiens_hsa052030.72424341
53Alcoholism_Homo sapiens_hsa050340.72327178
54Non-homologous end-joining_Homo sapiens_hsa034500.70077772
55Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.68549005
56Systemic lupus erythematosus_Homo sapiens_hsa053220.68440702
57RNA degradation_Homo sapiens_hsa030180.67615615
58Purine metabolism_Homo sapiens_hsa002300.66935495
59Oocyte meiosis_Homo sapiens_hsa041140.65928493
60Type II diabetes mellitus_Homo sapiens_hsa049300.64784709
61Nitrogen metabolism_Homo sapiens_hsa009100.64461232
62Fructose and mannose metabolism_Homo sapiens_hsa000510.64237166
63Cysteine and methionine metabolism_Homo sapiens_hsa002700.64018616
64Carbohydrate digestion and absorption_Homo sapiens_hsa049730.62211314
65Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.61323471
66Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.58079470
67Epstein-Barr virus infection_Homo sapiens_hsa051690.56243819
68Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.54845667
69Metabolic pathways_Homo sapiens_hsa011000.54502608
70Arginine biosynthesis_Homo sapiens_hsa002200.54035615
71Glioma_Homo sapiens_hsa052140.53199107
72Pentose phosphate pathway_Homo sapiens_hsa000300.51151436
73N-Glycan biosynthesis_Homo sapiens_hsa005100.50180502
74Central carbon metabolism in cancer_Homo sapiens_hsa052300.48699778
75Transcriptional misregulation in cancer_Homo sapiens_hsa052020.48524823
76Prolactin signaling pathway_Homo sapiens_hsa049170.47657377
77Apoptosis_Homo sapiens_hsa042100.47472582
78Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.46946134
79B cell receptor signaling pathway_Homo sapiens_hsa046620.45303057
80VEGF signaling pathway_Homo sapiens_hsa043700.44768990
81Selenocompound metabolism_Homo sapiens_hsa004500.44422024
82Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.43606690
83AMPK signaling pathway_Homo sapiens_hsa041520.42028028
84Insulin signaling pathway_Homo sapiens_hsa049100.41638610
85Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.41370997
86Jak-STAT signaling pathway_Homo sapiens_hsa046300.39396268
87Maturity onset diabetes of the young_Homo sapiens_hsa049500.39153928
88Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.38215941
89Endometrial cancer_Homo sapiens_hsa052130.38144548
90Glycerophospholipid metabolism_Homo sapiens_hsa005640.37926965
91Regulation of autophagy_Homo sapiens_hsa041400.35934651
92Protein export_Homo sapiens_hsa030600.33584046
93Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.33450325
94ErbB signaling pathway_Homo sapiens_hsa040120.33024708
952-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.31552623
96FoxO signaling pathway_Homo sapiens_hsa040680.30591186
97African trypanosomiasis_Homo sapiens_hsa051430.29530078
98Glutathione metabolism_Homo sapiens_hsa004800.29236419
99Melanoma_Homo sapiens_hsa052180.28745294
100Hepatitis B_Homo sapiens_hsa051610.27920292

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