RHCE

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 Rh blood group system is the second most clinically significant of the blood groups, second only to ABO. It is also the most polymorphic of the blood groups, with variations due to deletions, gene conversions, and missense mutations. The Rh blood group includes this gene which encodes both the RhC and RhE antigens on a single polypeptide and a second gene which encodes the RhD protein. The classification of Rh-positive and Rh-negative individuals is determined by the presence or absence of the highly immunogenic RhD protein on the surface of erythrocytes. A mutation in this gene results in amorph-type Rh-null disease. Alternative splicing of this gene results in multiple transcript variants encoding several different isoforms. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1tetrapyrrole biosynthetic process (GO:0033014)9.62208887
2erythrocyte maturation (GO:0043249)9.22619293
3porphyrin-containing compound metabolic process (GO:0006778)9.15940192
4heme biosynthetic process (GO:0006783)8.82844158
5hemoglobin metabolic process (GO:0020027)7.97027602
6erythrocyte development (GO:0048821)7.80115094
7heme metabolic process (GO:0042168)7.72365864
8myeloid cell development (GO:0061515)5.82262649
9tetrapyrrole metabolic process (GO:0033013)5.77902557
10regulation of response to osmotic stress (GO:0047484)5.33701959
11response to methylmercury (GO:0051597)4.73848209
12granulocyte differentiation (GO:0030851)4.54414073
13megakaryocyte development (GO:0035855)4.41980835
14one-carbon compound transport (GO:0019755)4.32156781
15modulation by virus of host process (GO:0019054)4.24227091
16innate immune response in mucosa (GO:0002227)4.16044144
17antibacterial humoral response (GO:0019731)4.10454248
18protein-cofactor linkage (GO:0018065)4.09953359
19response to insecticide (GO:0017085)4.06944230
20platelet formation (GO:0030220)4.04984068
21glycine transport (GO:0015816)3.98923640
22definitive hemopoiesis (GO:0060216)3.90175901
23embryonic hemopoiesis (GO:0035162)3.87570576
24erythrocyte differentiation (GO:0030218)3.86301231
25pigment biosynthetic process (GO:0046148)3.81496058
26response to lead ion (GO:0010288)3.77220523
27deoxyribonucleoside monophosphate metabolic process (GO:0009162)3.71079669
28antimicrobial humoral response (GO:0019730)3.66762469
29bicarbonate transport (GO:0015701)3.66305844
30negative regulation of erythrocyte differentiation (GO:0045647)3.66205601
31negative regulation of viral entry into host cell (GO:0046597)3.64482687
32iron ion import (GO:0097286)3.59191962
33killing of cells of other organism (GO:0031640)3.59100062
34disruption of cells of other organism (GO:0044364)3.59100062
35pigment metabolic process (GO:0042440)3.47695953
36S-adenosylmethionine metabolic process (GO:0046500)3.39097738
37protein neddylation (GO:0045116)3.38886798
38regulation of erythrocyte differentiation (GO:0045646)3.37861133
39positive regulation of granulocyte differentiation (GO:0030854)3.37488332
40mucosal immune response (GO:0002385)3.35685133
41positive regulation of erythrocyte differentiation (GO:0045648)3.32738245
42hematopoietic stem cell differentiation (GO:0060218)3.20741540
43hydrogen peroxide catabolic process (GO:0042744)3.19841727
442-deoxyribonucleotide biosynthetic process (GO:0009265)3.16650975
45deoxyribose phosphate biosynthetic process (GO:0046385)3.16650975
46modulation by symbiont of host cellular process (GO:0044068)3.07638923
47homocysteine metabolic process (GO:0050667)3.06811084
48organ or tissue specific immune response (GO:0002251)3.00658420
49positive regulation of megakaryocyte differentiation (GO:0045654)2.99402219
50defense response to fungus (GO:0050832)2.98477966
51pyrimidine deoxyribonucleotide metabolic process (GO:0009219)2.92432560
52pyrimidine deoxyribonucleotide catabolic process (GO:0009223)2.86036059
53poly(A)+ mRNA export from nucleus (GO:0016973)2.83723606
54neutrophil activation involved in immune response (GO:0002283)2.83104084
55energy coupled proton transport, down electrochemical gradient (GO:0015985)2.82594805
56ATP synthesis coupled proton transport (GO:0015986)2.82594805
57response to arsenic-containing substance (GO:0046685)2.80780101
58preassembly of GPI anchor in ER membrane (GO:0016254)2.78359470
59DNA topological change (GO:0006265)2.74756398
60ribosomal small subunit biogenesis (GO:0042274)2.68012938
61regulation of viral entry into host cell (GO:0046596)2.66112747
62viral transcription (GO:0019083)2.63185885
63cofactor biosynthetic process (GO:0051188)2.62194878
64regulation of histone H3-K9 methylation (GO:0051570)2.62076900
65cellular protein catabolic process (GO:0044257)2.60948846
66ribosomal small subunit assembly (GO:0000028)2.60801155
67cellular response to arsenic-containing substance (GO:0071243)2.60635165
68translational termination (GO:0006415)2.58929630
69negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)2.58780115
70folic acid metabolic process (GO:0046655)2.56017748
71DNA replication checkpoint (GO:0000076)2.54414960
72cysteine metabolic process (GO:0006534)2.49322732
73autophagic vacuole fusion (GO:0000046)2.45233500
74mitochondrial ATP synthesis coupled proton transport (GO:0042776)2.44673431
75purine-containing compound salvage (GO:0043101)2.44181500
76positive regulation of hematopoietic progenitor cell differentiation (GO:1901534)2.40309115
77regulation of histone H3-K4 methylation (GO:0051569)2.39716786
78deoxyribonucleotide biosynthetic process (GO:0009263)2.36866147
79positive regulation of cellular response to oxidative stress (GO:1900409)2.36334085
80positive regulation of response to oxidative stress (GO:1902884)2.36334085
81organelle membrane fusion (GO:0090174)2.33456448
82hemopoiesis (GO:0030097)2.33031138
83proline biosynthetic process (GO:0006561)2.31451452
84iron ion homeostasis (GO:0055072)2.28476684
85translational elongation (GO:0006414)2.25351190
86kinetochore organization (GO:0051383)2.22454396
87hydrogen peroxide metabolic process (GO:0042743)2.21130890
88regulation of megakaryocyte differentiation (GO:0045652)2.20231461
89pyrimidine nucleotide catabolic process (GO:0006244)2.19433965
90viral life cycle (GO:0019058)2.19413027
91killing of cells in other organism involved in symbiotic interaction (GO:0051883)2.18753007
92disruption of cells of other organism involved in symbiotic interaction (GO:0051818)2.18753007
93regulation of translational fidelity (GO:0006450)2.18633202
94regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)2.18580447
95very-low-density lipoprotein particle assembly (GO:0034379)2.18004783
96protoporphyrinogen IX metabolic process (GO:0046501)15.1486688
97oxygen transport (GO:0015671)14.7541861
98gas transport (GO:0015669)13.4067883
99protoporphyrinogen IX biosynthetic process (GO:0006782)12.8991598
100porphyrin-containing compound biosynthetic process (GO:0006779)10.4830223

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1GATA1_22025678_ChIP-Seq_K562_Human6.90705505
2E2F7_22180533_ChIP-Seq_HELA_Human6.00249029
3GATA1_19941826_ChIP-Seq_K562_Human5.98757389
4EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse4.55579879
5GATA2_19941826_ChIP-Seq_K562_Human3.67533193
6SOX9_22984422_ChIP-ChIP_TESTIS_Rat3.38988055
7SCL_19346495_ChIP-Seq_HPC-7_Human3.06029896
8ELF1_17652178_ChIP-ChIP_JURKAT_Human2.88476720
9TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse2.73195248
10FOXM1_23109430_ChIP-Seq_U2OS_Human2.67431633
11KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.66770504
12KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse2.51758099
13NCOR1_26117541_ChIP-Seq_K562_Human2.43831028
14GATA1_19941827_ChIP-Seq_MEL_Mouse2.35719537
15EST1_17652178_ChIP-ChIP_JURKAT_Human2.11923650
16GATA1_22383799_ChIP-Seq_G1ME_Mouse2.00307005
17E2F4_17652178_ChIP-ChIP_JURKAT_Human1.98647243
18SRF_21415370_ChIP-Seq_HL-1_Mouse1.92917611
19GABP_17652178_ChIP-ChIP_JURKAT_Human1.90411617
20HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.88220163
21JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.86499774
22TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.83588611
23GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.82336367
24SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.78268525
25THAP11_20581084_ChIP-Seq_MESCs_Mouse1.75739013
26FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.75542808
27ETS1_20019798_ChIP-Seq_JURKAT_Human1.66666321
28FOXP3_21729870_ChIP-Seq_TREG_Human1.66191659
29MYC_18358816_ChIP-ChIP_MESCs_Mouse1.62372839
30MYC_18555785_ChIP-Seq_MESCs_Mouse1.60162949
31CREB1_15753290_ChIP-ChIP_HEK293T_Human1.58996212
32VDR_23849224_ChIP-Seq_CD4+_Human1.56966298
33XRN2_22483619_ChIP-Seq_HELA_Human1.56651599
34RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.54626732
35SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.48116460
36PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.47285420
37BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.43959901
38LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.43572671
39ELF1_20517297_ChIP-Seq_JURKAT_Human1.42941884
40CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.39405808
41MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.36000856
42EGR1_19374776_ChIP-ChIP_THP-1_Human1.31533362
43LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.29667278
44TP53_22573176_ChIP-Seq_HFKS_Human1.29482965
45DCP1A_22483619_ChIP-Seq_HELA_Human1.29381664
46MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.29253380
47TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.28720766
48HOXB4_20404135_ChIP-ChIP_EML_Mouse1.27442730
49ZNF263_19887448_ChIP-Seq_K562_Human1.26134762
50MECOM_23826213_ChIP-Seq_KASUMI_Mouse1.25435300
51VDR_22108803_ChIP-Seq_LS180_Human1.23849210
52TFEB_21752829_ChIP-Seq_HELA_Human1.21416578
53GATA2_22383799_ChIP-Seq_G1ME_Mouse1.20272696
54TTF2_22483619_ChIP-Seq_HELA_Human1.19741618
55FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.19199572
56GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.19145275
57MYC_19079543_ChIP-ChIP_MESCs_Mouse1.15196193
58HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.14860455
59MYC_19030024_ChIP-ChIP_MESCs_Mouse1.14208916
60VDR_21846776_ChIP-Seq_THP-1_Human1.12452580
61YY1_21170310_ChIP-Seq_MESCs_Mouse1.11079988
62SRY_22984422_ChIP-ChIP_TESTIS_Rat1.08958522
63MAF_26560356_Chip-Seq_TH1_Human1.07699978
64UTX_26944678_Chip-Seq_JUKART_Human1.07649331
65MYC_22102868_ChIP-Seq_BL_Human1.07396361
66GABP_19822575_ChIP-Seq_HepG2_Human1.05754559
67CTCF_21964334_Chip-Seq_Bcells_Human1.05675630
68E2F1_18555785_ChIP-Seq_MESCs_Mouse1.04905341
69SPI1_23127762_ChIP-Seq_K562_Human1.03162596
70* BCL6_27268052_Chip-Seq_Bcells_Human1.02121568
71CTCF_27219007_Chip-Seq_ERYTHROID_Human1.01487715
72CTCF_21964334_ChIP-Seq_BJAB-B_Human1.01060538
73MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse0.99755330
74SFPI1_20887958_ChIP-Seq_HPC-7_Mouse0.99532014
75* BCOR_27268052_Chip-Seq_Bcells_Human0.98620608
76KDM5A_27292631_Chip-Seq_BREAST_Human0.97534082
77SPI1_22096565_ChIP-ChIP_GC-B_Mouse0.97405190
78ETS1_22383799_ChIP-Seq_G1ME_Mouse0.96268881
79CIITA_25753668_ChIP-Seq_RAJI_Human0.95811589
80NOTCH1_17114293_ChIP-ChIP_T-ALL_Human0.94361046
81NELFA_20434984_ChIP-Seq_ESCs_Mouse0.93951588
82CCND1_20090754_ChIP-ChIP_RETINA_Mouse0.93422742
83YY1_22570637_ChIP-Seq_MALME-3M_Human0.92646745
84RUNX1_22412390_ChIP-Seq_EML_Mouse0.92224109
85TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat0.91981763
86IRF1_19129219_ChIP-ChIP_H3396_Human0.91592409
87ERG_20887958_ChIP-Seq_HPC-7_Mouse0.90412267
88ELK1_19687146_ChIP-ChIP_HELA_Human0.90379880
89SPI1_20517297_ChIP-Seq_HL60_Human0.89178603
90SPI1_23547873_ChIP-Seq_NB4_Human0.87707241
91CHD7_19251738_ChIP-ChIP_MESCs_Mouse0.87673306
92STAT4_19710469_ChIP-ChIP_TH1__Mouse0.87184070
93HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse0.87057339
94GFI1B_20887958_ChIP-Seq_HPC-7_Mouse0.86393483
95CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human0.85760005
96E2F1_21310950_ChIP-Seq_MCF-7_Human0.85525571
97CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.83552889
98CEBPA_23403033_ChIP-Seq_LIVER_Mouse0.82311492
99* GATA6_21074721_ChIP-Seq_CACO-2_Mouse0.81308416
100FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse0.81241105

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003656_abnormal_erythrocyte_physiolo8.72048415
2MP0005083_abnormal_biliary_tract4.88683908
3MP0005397_hematopoietic_system_phenotyp3.25492789
4MP0001545_abnormal_hematopoietic_system3.25492789
5MP0005636_abnormal_mineral_homeostasis2.17433976
6MP0003878_abnormal_ear_physiology2.14037535
7MP0005377_hearing/vestibular/ear_phenot2.14037535
8MP0005464_abnormal_platelet_physiology2.12583562
9MP0003186_abnormal_redox_activity2.11886016
10MP0008995_early_reproductive_senescence2.03471454
11MP0004147_increased_porphyrin_level11.2672211
12MP0009278_abnormal_bone_marrow1.91973226
13MP0003303_peritoneal_inflammation1.91172432
14MP0000015_abnormal_ear_pigmentation1.89088061
15MP0003111_abnormal_nucleus_morphology1.86430892
16MP0006036_abnormal_mitochondrial_physio1.58747601
17MP0002095_abnormal_skin_pigmentation1.51058023
18MP0003879_abnormal_hair_cell1.48952688
19MP0008058_abnormal_DNA_repair1.48655114
20MP0004145_abnormal_muscle_electrophysio1.46603030
21MP0002132_abnormal_respiratory_system1.42629996
22MP0004885_abnormal_endolymph1.32139025
23MP0002398_abnormal_bone_marrow1.30994939
24MP0003786_premature_aging1.25277120
25MP0001529_abnormal_vocalization1.24690730
26MP0008775_abnormal_heart_ventricle1.17771907
27MP0002722_abnormal_immune_system1.15467372
28MP0002653_abnormal_ependyma_morphology1.15221087
29MP0008872_abnormal_physiological_respon1.12579202
30MP0000689_abnormal_spleen_morphology1.12350614
31MP0002138_abnormal_hepatobiliary_system1.09318315
32MP0010094_abnormal_chromosome_stability1.03476019
33MP0004808_abnormal_hematopoietic_stem1.01245155
34MP0005075_abnormal_melanosome_morpholog0.99958045
35MP0004142_abnormal_muscle_tone0.94893866
36MP0002429_abnormal_blood_cell0.94705307
37MP0004957_abnormal_blastocyst_morpholog0.94065201
38MP0000372_irregular_coat_pigmentation0.90596101
39MP0009333_abnormal_splenocyte_physiolog0.89276356
40MP0006035_abnormal_mitochondrial_morpho0.86624357
41MP0000313_abnormal_cell_death0.84047445
42MP0009764_decreased_sensitivity_to0.83319168
43MP0006054_spinal_hemorrhage0.82658661
44MP0003077_abnormal_cell_cycle0.81803139
45MP0009697_abnormal_copulation0.81495880
46MP0003806_abnormal_nucleotide_metabolis0.80091329
47MP0009931_abnormal_skin_appearance0.78296726
48MP0009785_altered_susceptibility_to0.78164084
49MP0005646_abnormal_pituitary_gland0.77485313
50MP0003693_abnormal_embryo_hatching0.76901444
51MP0000703_abnormal_thymus_morphology0.75568414
52MP0006276_abnormal_autonomic_nervous0.75372515
53MP0008004_abnormal_stomach_pH0.75310064
54MP0009765_abnormal_xenobiotic_induced0.73690344
55MP0003136_yellow_coat_color0.70442105
56MP0000685_abnormal_immune_system0.69820016
57MP0005645_abnormal_hypothalamus_physiol0.68762913
58MP0000343_altered_response_to0.68695748
59MP0005025_abnormal_response_to0.68586586
60MP0003718_maternal_effect0.68497458
61MP0005171_absent_coat_pigmentation0.64360124
62MP0001764_abnormal_homeostasis0.63014105
63MP0001986_abnormal_taste_sensitivity0.62835916
64MP0000465_gastrointestinal_hemorrhage0.61889431
65MP0002019_abnormal_tumor_incidence0.59948717
66MP0000609_abnormal_liver_physiology0.59890674
67MP0005000_abnormal_immune_tolerance0.58840813
68MP0002405_respiratory_system_inflammati0.58465272
69MP0003436_decreased_susceptibility_to0.57126835
70MP0001188_hyperpigmentation0.55733953
71MP0001664_abnormal_digestion0.55351901
72MP0000716_abnormal_immune_system0.55340473
73MP0001905_abnormal_dopamine_level0.54967477
74MP0002396_abnormal_hematopoietic_system0.54692741
75MP0010307_abnormal_tumor_latency0.53945885
76MP0009643_abnormal_urine_homeostasis0.53665900
77MP0005671_abnormal_response_to0.52517826
78MP0002420_abnormal_adaptive_immunity0.52007200
79MP0005410_abnormal_fertilization0.50589290
80MP0004130_abnormal_muscle_cell0.50514599
81MP0002210_abnormal_sex_determination0.50249758
82MP0002083_premature_death0.50206055
83MP0008057_abnormal_DNA_replication0.50173249
84MP0001819_abnormal_immune_cell0.50100557
85MP0005084_abnormal_gallbladder_morpholo0.49890052
86MP0003866_abnormal_defecation0.49823073
87MP0003698_abnormal_male_reproductive0.48498083
88MP0005220_abnormal_exocrine_pancreas0.48350232
89MP0001929_abnormal_gametogenesis0.47931429
90MP0000598_abnormal_liver_morphology0.47705827
91MP0009763_increased_sensitivity_to0.46110828
92MP0005174_abnormal_tail_pigmentation0.45628823
93MP0008873_increased_physiological_sensi0.45528923
94MP0005451_abnormal_body_composition0.43478440
95MP0001727_abnormal_embryo_implantation0.43361041
96MP0003172_abnormal_lysosome_physiology0.43335444
97MP0003011_delayed_dark_adaptation0.43066674
98MP0005501_abnormal_skin_physiology0.42530482
99MP0001756_abnormal_urination0.42408392
100MP0002723_abnormal_immune_serum0.40953745

Predicted human phenotypes

RankGene SetZ-score
1Poikilocytosis (HP:0004447)9.72528047
2Abnormal hemoglobin (HP:0011902)8.75965143
3Reticulocytosis (HP:0001923)7.57694413
4Hypochromic microcytic anemia (HP:0004840)7.11713374
5Microcytic anemia (HP:0001935)6.21904118
6Acanthocytosis (HP:0001927)6.03725397
7Paralysis (HP:0003470)5.73093939
8Abnormality of reticulocytes (HP:0004312)5.33303707
9Polycythemia (HP:0001901)5.11773381
10Cholelithiasis (HP:0001081)4.91824919
11Hypochromic anemia (HP:0001931)4.85530019
12Abnormal gallbladder morphology (HP:0012437)4.46020575
13Pallor (HP:0000980)4.41650743
14Ileus (HP:0002595)4.14870685
15Abnormal number of erythroid precursors (HP:0012131)4.08426753
16Hyperbilirubinemia (HP:0002904)3.99803288
17Prolonged bleeding time (HP:0003010)3.92750834
18Abnormality of cells of the erythroid lineage (HP:0012130)3.80242903
19Diaphragmatic weakness (HP:0009113)3.49505979
20Hypertensive crisis (HP:0100735)3.45618432
21Cholecystitis (HP:0001082)3.31122897
22Abnormal gallbladder physiology (HP:0012438)3.31122897
23Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)3.24621718
24Abnormality of the gallbladder (HP:0005264)3.24421752
25Impaired platelet aggregation (HP:0003540)3.13283544
26Abnormal platelet function (HP:0011869)3.13283544
27Abnormality of iron homeostasis (HP:0011031)3.08637369
28Petechiae (HP:0000967)3.07473067
29Abnormality of transition element cation homeostasis (HP:0011030)2.96116330
30Abnormality of homocysteine metabolism (HP:0010919)2.90242558
31Homocystinuria (HP:0002156)2.90242558
32Gastrointestinal infarctions (HP:0005244)2.86607632
33Albinism (HP:0001022)2.73150053
34Hyperthyroidism (HP:0000836)2.69230207
35Cutaneous photosensitivity (HP:0000992)2.68146874
36Nausea (HP:0002018)2.67189022
37Epistaxis (HP:0000421)2.59580846
38Insomnia (HP:0100785)2.59245771
39Increased serum ferritin (HP:0003281)2.56117167
40Acute necrotizing encephalopathy (HP:0006965)2.51015877
41Toxemia of pregnancy (HP:0100603)2.47530838
42Osteomalacia (HP:0002749)2.44634907
43Truncus arteriosus (HP:0001660)2.41425563
44Acute encephalopathy (HP:0006846)2.41126049
45Cerebral palsy (HP:0100021)2.30371450
46Abnormal mitochondria in muscle tissue (HP:0008316)2.25800803
47Increased mean platelet volume (HP:0011877)2.22577585
48Hypoparathyroidism (HP:0000829)2.10945118
49Abnormal platelet volume (HP:0011876)2.09658962
50Aplasia/Hypoplasia of the earlobes (HP:0009906)2.08885834
51Progressive macrocephaly (HP:0004481)2.01633494
52Abnormality of the fingertips (HP:0001211)2.00570878
53Esophageal neoplasm (HP:0100751)2.00560167
54Neoplasm of head and neck (HP:0012288)2.00560167
55Abnormality of the heme biosynthetic pathway (HP:0010472)15.3869393
56Hyponatremia (HP:0002902)1.93149225
57Decreased activity of mitochondrial respiratory chain (HP:0008972)1.89705983
58Abnormal activity of mitochondrial respiratory chain (HP:0011922)1.89705983
59Increased IgM level (HP:0003496)1.86392548
60Nonimmune hydrops fetalis (HP:0001790)1.86003499
61Rectal prolapse (HP:0002035)1.85646463
62Abnormality of sodium homeostasis (HP:0010931)1.83756990
63Menorrhagia (HP:0000132)1.83186002
64Parkinsonism with favorable response to dopaminergic medication (HP:0002548)1.82443661
65Hepatocellular carcinoma (HP:0001402)1.76298842
663-Methylglutaconic aciduria (HP:0003535)1.76218349
67Abnormality of renal resorption (HP:0011038)1.67622212
68Seborrheic dermatitis (HP:0001051)1.65563802
69Macrocytic anemia (HP:0001972)1.63060783
70Exertional dyspnea (HP:0002875)1.60639806
71Abnormality of dental color (HP:0011073)1.59909499
72Short middle phalanx of the 5th finger (HP:0004220)1.57496408
73Chronic obstructive pulmonary disease (HP:0006510)1.57365120
74Obstructive lung disease (HP:0006536)1.57365120
75Purpura (HP:0000979)1.55016966
76Mitochondrial inheritance (HP:0001427)1.54365514
77Abnormality of nail color (HP:0100643)1.50646973
78Onycholysis (HP:0001806)1.50526037
79Anhidrosis (HP:0000970)1.50026004
80Ventricular fibrillation (HP:0001663)1.46859645
81Birth length less than 3rd percentile (HP:0003561)1.45442070
82Hyperalaninemia (HP:0003348)1.43642041
83Abnormality of pyruvate family amino acid metabolism (HP:0010915)1.43642041
84Abnormality of alanine metabolism (HP:0010916)1.43642041
85Generalized aminoaciduria (HP:0002909)1.42750534
86Congenital nonbullous ichthyosiform erythroderma (HP:0007479)1.41791511
87Abnormality of the anterior horn cell (HP:0006802)1.41279106
88Degeneration of anterior horn cells (HP:0002398)1.41279106
89Severe visual impairment (HP:0001141)1.40625101
90Renal tubular acidosis (HP:0001947)1.38659763
91Increased CSF lactate (HP:0002490)1.38431230
92Renal Fanconi syndrome (HP:0001994)1.37340468
93Increased intramyocellular lipid droplets (HP:0012240)1.37244424
94Cerebral edema (HP:0002181)1.37038008
95Increased muscle lipid content (HP:0009058)1.34927323
96Abnormality of sulfur amino acid metabolism (HP:0004339)1.34331092
97Gingival bleeding (HP:0000225)1.34005066
98Confusion (HP:0001289)1.32132828
99Gastrointestinal dysmotility (HP:0002579)1.32100528
100Anorexia (HP:0002039)1.32059241

Predicted kinase interactions (KEA)

RankGene SetZ-score
1EIF2AK19.71259400
2RIPK42.50493134
3BMX2.44212842
4TRPM72.39994928
5CLK12.36032664
6SCYL22.30309423
7TLK12.24330263
8GRK62.11028082
9PIM12.01583381
10TAOK21.90349928
11MAP2K31.80179940
12RPS6KA51.75148500
13DYRK31.74904294
14PRPF4B1.74502296
15ZAK1.71011584
16MAP3K111.70451739
17TAOK31.62453720
18SYK1.61690704
19CDC71.50818385
20STK41.48648933
21MST41.44574534
22TAOK11.26661167
23IKBKB1.13644725
24PLK41.12931046
25BMPR21.12882221
26NEK21.12651970
27TEC1.09056723
28MAP2K11.04159222
29PTK2B1.03595361
30WNK11.03100070
31INSRR1.00128297
32CHEK20.98841649
33BTK0.98782781
34RAF10.96368403
35NUAK10.94133493
36CCNB10.92373103
37BUB10.90752642
38TTK0.89703581
39RPS6KL10.87450625
40RPS6KC10.87450625
41MARK30.87261745
42JAK30.86441080
43MAPK120.85524363
44STK30.84738437
45RPS6KA60.81795894
46MAP3K30.81654572
47PRKCQ0.81634345
48DYRK20.81382633
49ABL20.79142267
50PDK20.78785110
51MAP3K80.76516294
52MATK0.75724313
53NME20.75701061
54MAP3K50.73625155
55PLK10.72335502
56PLK30.71887043
57TESK20.68820169
58GRK50.67529574
59MAP2K20.66789616
60PIM20.65273923
61MAPK110.63868429
62LYN0.62907681
63BCKDK0.61738019
64RPS6KA20.59845666
65SGK10.58326397
66HIPK20.58106420
67STK160.58091855
68ILK0.57466791
69JAK20.55530499
70KSR20.55093831
71PRKACG0.50457666
72MAP3K10.50288224
73ATM0.50120543
74IKBKE0.48978015
75CSNK2A10.47811764
76MAPKAPK30.45849134
77PINK10.45835707
78TXK0.45394374
79DMPK0.45063938
80WEE10.44835139
81CDK40.43453987
82CSNK2A20.43235100
83MAPK130.41849702
84AURKA0.37283188
85VRK10.34766938
86DYRK1A0.34546746
87CHEK10.34357445
88BRSK20.34294947
89KDR0.33989681
90MAP4K20.33633167
91MAP3K20.33394799
92MAPKAPK50.33359269
93RPS6KB20.32096088
94ZAP700.31580248
95TNK20.31173968
96RPS6KB10.31121142
97ATR0.30885600
98MAP4K10.30764739
99MAP2K60.29398944
100SGK30.29022178

Predicted pathways (KEGG)

RankGene SetZ-score
1Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008606.23729880
2Malaria_Homo sapiens_hsa051443.56535246
3Butirosin and neomycin biosynthesis_Homo sapiens_hsa005243.27230601
4Ribosome_Homo sapiens_hsa030103.13824776
5Nitrogen metabolism_Homo sapiens_hsa009102.95292117
6DNA replication_Homo sapiens_hsa030302.63295093
7One carbon pool by folate_Homo sapiens_hsa006702.42464700
8Sulfur relay system_Homo sapiens_hsa041222.36366123
9Mismatch repair_Homo sapiens_hsa034302.30582185
10Oxidative phosphorylation_Homo sapiens_hsa001902.24632828
11Parkinsons disease_Homo sapiens_hsa050122.12028314
12Collecting duct acid secretion_Homo sapiens_hsa049662.11281459
13Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.11168354
14Nucleotide excision repair_Homo sapiens_hsa034202.10292470
15Homologous recombination_Homo sapiens_hsa034401.95100936
16Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.76573086
17Sulfur metabolism_Homo sapiens_hsa009201.68403920
18SNARE interactions in vesicular transport_Homo sapiens_hsa041301.63808905
19Base excision repair_Homo sapiens_hsa034101.63595083
20Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.62004964
21Hematopoietic cell lineage_Homo sapiens_hsa046401.60408505
22Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.56357805
23Huntingtons disease_Homo sapiens_hsa050161.47892269
24Fanconi anemia pathway_Homo sapiens_hsa034601.47187682
25Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.46992044
26Cell cycle_Homo sapiens_hsa041101.46760028
27Proteasome_Homo sapiens_hsa030501.42784018
28African trypanosomiasis_Homo sapiens_hsa051431.41658310
29Asthma_Homo sapiens_hsa053101.35466755
30Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.32807455
31RNA polymerase_Homo sapiens_hsa030201.31577605
32alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.25189144
33Regulation of autophagy_Homo sapiens_hsa041401.22845556
34Systemic lupus erythematosus_Homo sapiens_hsa053221.18910202
35Linoleic acid metabolism_Homo sapiens_hsa005911.18631675
36Basal transcription factors_Homo sapiens_hsa030221.08666157
37Pyrimidine metabolism_Homo sapiens_hsa002401.05581515
38Alzheimers disease_Homo sapiens_hsa050101.00591044
39Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.99975437
40Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.99808032
41Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.88228750
42Adipocytokine signaling pathway_Homo sapiens_hsa049200.87297131
43Spliceosome_Homo sapiens_hsa030400.85490883
44Pyruvate metabolism_Homo sapiens_hsa006200.84988976
45ABC transporters_Homo sapiens_hsa020100.82159252
46Purine metabolism_Homo sapiens_hsa002300.77278042
47RNA transport_Homo sapiens_hsa030130.77229236
48mRNA surveillance pathway_Homo sapiens_hsa030150.76597313
49Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.74035139
50Non-small cell lung cancer_Homo sapiens_hsa052230.72492831
51Transcriptional misregulation in cancer_Homo sapiens_hsa052020.71180135
52Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.70630415
53Alcoholism_Homo sapiens_hsa050340.70628996
54Glycerophospholipid metabolism_Homo sapiens_hsa005640.66736787
55RNA degradation_Homo sapiens_hsa030180.65082566
56Ether lipid metabolism_Homo sapiens_hsa005650.62388656
57Herpes simplex infection_Homo sapiens_hsa051680.62343057
58Arachidonic acid metabolism_Homo sapiens_hsa005900.61708489
59Folate biosynthesis_Homo sapiens_hsa007900.56678435
60Metabolic pathways_Homo sapiens_hsa011000.55022109
61Apoptosis_Homo sapiens_hsa042100.53317070
62Cysteine and methionine metabolism_Homo sapiens_hsa002700.52558216
63Cardiac muscle contraction_Homo sapiens_hsa042600.52151074
64Viral carcinogenesis_Homo sapiens_hsa052030.51525436
65Epstein-Barr virus infection_Homo sapiens_hsa051690.49451167
66Maturity onset diabetes of the young_Homo sapiens_hsa049500.48809304
67Jak-STAT signaling pathway_Homo sapiens_hsa046300.48763230
68Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.47267798
69Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.46961628
70Chronic myeloid leukemia_Homo sapiens_hsa052200.42870181
71p53 signaling pathway_Homo sapiens_hsa041150.40681343
72Platelet activation_Homo sapiens_hsa046110.40637684
73Acute myeloid leukemia_Homo sapiens_hsa052210.39128504
74Selenocompound metabolism_Homo sapiens_hsa004500.38806313
75Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.37441996
76Oocyte meiosis_Homo sapiens_hsa041140.36937897
77Graft-versus-host disease_Homo sapiens_hsa053320.35602177
78Bladder cancer_Homo sapiens_hsa052190.32908291
79HIF-1 signaling pathway_Homo sapiens_hsa040660.32645559
80Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.32598307
81Dorso-ventral axis formation_Homo sapiens_hsa043200.32169324
82Thyroid cancer_Homo sapiens_hsa052160.31426578
83Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.30684049
84Measles_Homo sapiens_hsa051620.30211444
85Olfactory transduction_Homo sapiens_hsa047400.29832376
86Nicotine addiction_Homo sapiens_hsa050330.29096886
87Allograft rejection_Homo sapiens_hsa053300.27895152
88mTOR signaling pathway_Homo sapiens_hsa041500.27322612
89Synaptic vesicle cycle_Homo sapiens_hsa047210.27120946
90Carbohydrate digestion and absorption_Homo sapiens_hsa049730.26716808
91Pancreatic cancer_Homo sapiens_hsa052120.25236787
92Glutathione metabolism_Homo sapiens_hsa004800.25013801
93Type II diabetes mellitus_Homo sapiens_hsa049300.24389170
94B cell receptor signaling pathway_Homo sapiens_hsa046620.23835309
95Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.23752452
96Autoimmune thyroid disease_Homo sapiens_hsa053200.23602446
97Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.23221019
98Primary immunodeficiency_Homo sapiens_hsa053400.22111418
99Intestinal immune network for IgA production_Homo sapiens_hsa046720.21256660
100Protein export_Homo sapiens_hsa030600.21104135

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