SDHAP1

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: No gene information available for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)4.04361785
2negative regulation of telomere maintenance (GO:0032205)3.81597840
3epithelial cilium movement (GO:0003351)3.72254564
4indole-containing compound catabolic process (GO:0042436)3.57933849
5indolalkylamine catabolic process (GO:0046218)3.57933849
6tryptophan catabolic process (GO:0006569)3.57933849
7tryptophan metabolic process (GO:0006568)3.49947339
8histone H3-K4 trimethylation (GO:0080182)3.46227125
9cell wall macromolecule catabolic process (GO:0016998)3.43006702
10cilium movement (GO:0003341)3.30390534
11positive regulation of gamma-delta T cell activation (GO:0046645)3.30365861
12cell wall macromolecule metabolic process (GO:0044036)3.26141405
13regulation of cilium movement (GO:0003352)3.25746233
14fucose catabolic process (GO:0019317)3.22001505
15L-fucose metabolic process (GO:0042354)3.22001505
16L-fucose catabolic process (GO:0042355)3.22001505
17behavioral response to nicotine (GO:0035095)3.14991212
18regulation of gamma-delta T cell differentiation (GO:0045586)3.14556304
19cellular response to interleukin-15 (GO:0071350)3.10101162
20indolalkylamine metabolic process (GO:0006586)3.09092718
21positive regulation of defense response to virus by host (GO:0002230)3.07476347
22positive T cell selection (GO:0043368)3.07188195
23establishment of protein localization to Golgi (GO:0072600)3.06385196
24negative T cell selection (GO:0043383)2.98694227
25preassembly of GPI anchor in ER membrane (GO:0016254)2.94364340
26axonemal dynein complex assembly (GO:0070286)2.90069102
27regulation of gamma-delta T cell activation (GO:0046643)2.89330932
28mast cell degranulation (GO:0043303)2.88304981
29mast cell activation involved in immune response (GO:0002279)2.88304981
30axoneme assembly (GO:0035082)2.87215282
31protein polyglutamylation (GO:0018095)2.87093989
32negative thymic T cell selection (GO:0045060)2.86330270
33protein targeting to Golgi (GO:0000042)2.83106173
34aggressive behavior (GO:0002118)2.81882977
35positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)2.81674341
36Arp2/3 complex-mediated actin nucleation (GO:0034314)2.80183969
37S-adenosylmethionine metabolic process (GO:0046500)2.75746327
38protein localization to Golgi apparatus (GO:0034067)2.75128577
39DNA deamination (GO:0045006)2.74994569
40amine catabolic process (GO:0009310)2.73734917
41cellular biogenic amine catabolic process (GO:0042402)2.73734917
42regulation of telomere maintenance (GO:0032204)2.72696306
43peptidyl-lysine trimethylation (GO:0018023)2.71725079
44response to pheromone (GO:0019236)2.71017808
45protein K11-linked deubiquitination (GO:0035871)2.69939790
46sperm motility (GO:0030317)2.69731961
47negative regulation of cell cycle arrest (GO:0071157)2.69346832
48pyrimidine nucleobase catabolic process (GO:0006208)2.69269067
49retrograde transport, vesicle recycling within Golgi (GO:0000301)2.68417598
50actin nucleation (GO:0045010)2.66901734
51regulation of B cell receptor signaling pathway (GO:0050855)2.65616661
52NAD biosynthetic process (GO:0009435)2.65312319
53cilium morphogenesis (GO:0060271)2.64347001
54dentate gyrus development (GO:0021542)2.63425270
55arginine catabolic process (GO:0006527)2.62886354
56positive regulation of protein homodimerization activity (GO:0090073)2.62688938
57lysosome localization (GO:0032418)2.62393690
58cilium or flagellum-dependent cell motility (GO:0001539)2.62196766
59histone H3-K9 methylation (GO:0051567)2.59547775
60adenosine metabolic process (GO:0046085)2.58710768
61interferon-gamma production (GO:0032609)2.57024402
62positive regulation of calcium-mediated signaling (GO:0050850)2.56225134
63mannosylation (GO:0097502)2.55825940
64ubiquinone biosynthetic process (GO:0006744)2.55163394
65seminiferous tubule development (GO:0072520)2.53905436
66multicellular organism reproduction (GO:0032504)2.53264254
67positive regulation of T cell mediated cytotoxicity (GO:0001916)2.52744227
68motile cilium assembly (GO:0044458)2.50585813
69forebrain neuron differentiation (GO:0021879)2.48911048
70regulation of germinal center formation (GO:0002634)2.46895267
71intraciliary transport (GO:0042073)2.46688940
72maintenance of protein location in nucleus (GO:0051457)2.45742350
73negative regulation of cytosolic calcium ion concentration (GO:0051481)2.45053908
74cilium organization (GO:0044782)2.42062316
75negative regulation of DNA binding (GO:0043392)2.41542704
76activated T cell proliferation (GO:0050798)2.40880575
77regulation of defense response to virus by host (GO:0050691)2.40463595
78positive regulation of fatty acid transport (GO:2000193)2.36826536
79T cell selection (GO:0045058)2.35946189
80cilium assembly (GO:0042384)2.35258087
81base-excision repair, AP site formation (GO:0006285)2.35171615
82response to interleukin-15 (GO:0070672)2.34418046
83negative regulation of translation involved in gene silencing by miRNA (GO:0035278)2.34115481
84negative regulation of translation, ncRNA-mediated (GO:0040033)2.34115481
85regulation of translation, ncRNA-mediated (GO:0045974)2.34115481
86negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)2.32834234
87regulation of T cell mediated cytotoxicity (GO:0001914)2.32323536
88quinone biosynthetic process (GO:1901663)2.32121166
89positive regulation of organic acid transport (GO:0032892)2.31968842
90phosphatidylethanolamine metabolic process (GO:0046337)2.30437199
91regulation of hydrogen peroxide metabolic process (GO:0010310)2.29676848
92positive regulation of icosanoid secretion (GO:0032305)2.28356244
93regulation of autophagic vacuole assembly (GO:2000785)2.27880889
94ubiquinone metabolic process (GO:0006743)2.27333945
95neural tube formation (GO:0001841)2.27206431
96somite development (GO:0061053)2.27090994
97mast cell activation (GO:0045576)2.26445821
98male meiosis (GO:0007140)2.26124354
99positive regulation of granulocyte differentiation (GO:0030854)2.26117381
100sulfation (GO:0051923)2.24999438

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1BP1_19119308_ChIP-ChIP_Hs578T_Human4.40507864
2IRF8_22096565_ChIP-ChIP_GC-B_Human3.36883951
3EZH2_22144423_ChIP-Seq_EOC_Human2.89017886
4CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human2.80083781
5ZNF274_21170338_ChIP-Seq_K562_Hela2.69626851
6STAT6_20620947_ChIP-Seq_CD4_POS_T_Human2.37625925
7IGF1R_20145208_ChIP-Seq_DFB_Human2.29992652
8E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.28999157
9GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.22151586
10ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.21114171
11HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.13912246
12* ER_23166858_ChIP-Seq_MCF-7_Human2.12762450
13CHD7_19251738_ChIP-ChIP_MESCs_Mouse2.09286264
14IRF1_19129219_ChIP-ChIP_H3396_Human1.98776645
15VDR_22108803_ChIP-Seq_LS180_Human1.91977455
16GBX2_23144817_ChIP-Seq_PC3_Human1.89248373
17SCL_19346495_ChIP-Seq_HPC-7_Human1.84119595
18LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.78480974
19CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.71327891
20FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.70159481
21GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.69544476
22RUNX_20019798_ChIP-Seq_JUKART_Human1.64825895
23NOTCH1_21737748_ChIP-Seq_TLL_Human1.64619412
24ERA_21632823_ChIP-Seq_H3396_Human1.63137641
25CTBP1_25329375_ChIP-Seq_LNCAP_Human1.59884141
26IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.57611483
27VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human1.48665946
28VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.46948342
29CIITA_25753668_ChIP-Seq_RAJI_Human1.45195506
30RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.41054969
31BCAT_22108803_ChIP-Seq_LS180_Human1.40503964
32PBX1_22567123_ChIP-ChIP_OVCAR3_Human1.37691161
33GATA3_26560356_Chip-Seq_TH2_Human1.35280461
34ETV2_25802403_ChIP-Seq_MESCs_Mouse1.34292320
35PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.33815315
36BCL6_27268052_Chip-Seq_Bcells_Human1.32681713
37CTBP2_25329375_ChIP-Seq_LNCAP_Human1.32616650
38IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.32219133
39CBP_20019798_ChIP-Seq_JUKART_Human1.32219133
40GATA3_21878914_ChIP-Seq_MCF-7_Human1.31801049
41MYB_26560356_Chip-Seq_TH2_Human1.29803555
42GATA3_27048872_Chip-Seq_THYMUS_Human1.29245478
43IRF8_21731497_ChIP-ChIP_J774_Mouse1.26007787
44E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.25167524
45RAC3_21632823_ChIP-Seq_H3396_Human1.23290133
46* WDR5_24793694_ChIP-Seq_LNCAP_Human1.22166293
47MAF_26560356_Chip-Seq_TH2_Human1.19140214
48AR_21572438_ChIP-Seq_LNCaP_Human1.17427308
49OCT4_20526341_ChIP-Seq_ESCs_Human1.16022782
50EBNA2_21746931_ChIP-Seq_IB4-LCL_Human1.15164065
51TP53_22573176_ChIP-Seq_HFKS_Human1.14792243
52ELF1_20517297_ChIP-Seq_JURKAT_Human1.14761632
53NANOG_20526341_ChIP-Seq_ESCs_Human1.12350086
54MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.11951089
55HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.11303360
56SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.11161334
57POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.10822752
58TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.10822752
59MYC_19829295_ChIP-Seq_ESCs_Human1.10097205
60AHR_22903824_ChIP-Seq_MCF-7_Human1.09924059
61DROSHA_22980978_ChIP-Seq_HELA_Human1.09771497
62EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.07386064
63SPI1_23127762_ChIP-Seq_K562_Human1.06582275
64CEBPA_26348894_ChIP-Seq_LIVER_Mouse1.05261411
65SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.04246804
66RBPJ_21746931_ChIP-Seq_IB4-LCL_Human1.04231816
67TAL1_22897851_ChIP-Seq_JUKARTE6-1_Human1.03207190
68CBX2_27304074_Chip-Seq_ESCs_Mouse1.01796912
69P300_27268052_Chip-Seq_Bcells_Human1.01285830
70ZFP57_27257070_Chip-Seq_ESCs_Mouse1.01054028
71RXR_22108803_ChIP-Seq_LS180_Human1.00049228
72STAT1_20625510_ChIP-Seq_HELA_Human0.99497376
73HOXB7_26014856_ChIP-Seq_BT474_Human0.98447331
74IRF8_22096565_ChIP-ChIP_GC-B_Mouse0.95332474
75TAF2_19829295_ChIP-Seq_ESCs_Human0.95031056
76PRDM14_20953172_ChIP-Seq_ESCs_Human0.94701184
77TCF4_23295773_ChIP-Seq_U87_Human0.94663832
78ESR1_20079471_ChIP-ChIP_T-47D_Human0.94257227
79MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human0.93832415
80POU3F2_20337985_ChIP-ChIP_501MEL_Human0.92503287
81NCOR_22424771_ChIP-Seq_293T_Human0.92385897
82* OCT4_19829295_ChIP-Seq_ESCs_Human0.92332408
83FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.91787244
84SMRT_27268052_Chip-Seq_Bcells_Human0.91565764
85E2F1_20622854_ChIP-Seq_HELA_Human0.91178095
86ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.90943561
87SRF_21415370_ChIP-Seq_HL-1_Mouse0.90771378
88RUNX1_22897851_ChIP-Seq_JUKARTE6-1_Human0.90505295
89VDR_23849224_ChIP-Seq_CD4+_Human0.88739874
90FOXH1_21741376_ChIP-Seq_EPCs_Human0.88392747
91FOXH1_21741376_ChIP-Seq_ESCs_Human0.88283355
92STAT3_23295773_ChIP-Seq_U87_Human0.87874175
93* EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human0.87549013
94RUNX2_22187159_ChIP-Seq_PCA_Human0.86717321
95P300_19829295_ChIP-Seq_ESCs_Human0.86531801
96KLF5_20875108_ChIP-Seq_MESCs_Mouse0.86373550
97LMO2_20887958_ChIP-Seq_HPC-7_Mouse0.86264020
98GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.85569817
99FOXA1_21572438_ChIP-Seq_LNCaP_Human0.85122081
100* PHF8_20622854_ChIP-Seq_HELA_Human0.84912875

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002653_abnormal_ependyma_morphology3.10502111
2MP0003646_muscle_fatigue2.58180265
3MP0002102_abnormal_ear_morphology2.54083676
4MP0000569_abnormal_digit_pigmentation2.45878848
5MP0005075_abnormal_melanosome_morpholog2.38259853
6MP0005671_abnormal_response_to2.14119290
7MP0000015_abnormal_ear_pigmentation2.10670516
8MP0006276_abnormal_autonomic_nervous2.09621853
9MP0003787_abnormal_imprinting2.04284729
10MP0003806_abnormal_nucleotide_metabolis2.03490741
11MP0003763_abnormal_thymus_physiology1.96805689
12MP0002132_abnormal_respiratory_system1.91997138
13MP0003724_increased_susceptibility_to1.90311080
14MP0005410_abnormal_fertilization1.89819020
15MP0002837_dystrophic_cardiac_calcinosis1.84408182
16MP0002638_abnormal_pupillary_reflex1.83766939
17MP0005646_abnormal_pituitary_gland1.81943697
18MP0004147_increased_porphyrin_level1.74286484
19MP0001984_abnormal_olfaction1.70855129
20MP0009278_abnormal_bone_marrow1.70031536
21MP0005174_abnormal_tail_pigmentation1.67747158
22MP0005645_abnormal_hypothalamus_physiol1.67032271
23MP0006292_abnormal_olfactory_placode1.65554146
24MP0001545_abnormal_hematopoietic_system1.62931912
25MP0005397_hematopoietic_system_phenotyp1.62931912
26MP0008877_abnormal_DNA_methylation1.53499229
27MP0000372_irregular_coat_pigmentation1.51991208
28MP0005423_abnormal_somatic_nervous1.49110492
29MP0001800_abnormal_humoral_immune1.48909374
30MP0008995_early_reproductive_senescence1.47440225
31MP0004142_abnormal_muscle_tone1.46696124
32MP0003136_yellow_coat_color1.43792089
33MP0004043_abnormal_pH_regulation1.42789444
34MP0000465_gastrointestinal_hemorrhage1.42226550
35MP0005551_abnormal_eye_electrophysiolog1.35208085
36MP0003880_abnormal_central_pattern1.34764452
37MP0002138_abnormal_hepatobiliary_system1.34693186
38MP0003656_abnormal_erythrocyte_physiolo1.33963931
39MP0001835_abnormal_antigen_presentation1.33069250
40MP0005167_abnormal_blood-brain_barrier1.28609943
41MP0005499_abnormal_olfactory_system1.27527767
42MP0005394_taste/olfaction_phenotype1.27527767
43MP0002095_abnormal_skin_pigmentation1.27405945
44MP0004145_abnormal_muscle_electrophysio1.20597569
45MP0006036_abnormal_mitochondrial_physio1.20559438
46MP0009046_muscle_twitch1.20483248
47MP0002723_abnormal_immune_serum1.19641149
48MP0001485_abnormal_pinna_reflex1.17098293
49MP0003172_abnormal_lysosome_physiology1.15436605
50MP0002420_abnormal_adaptive_immunity1.14391639
51MP0001819_abnormal_immune_cell1.13973324
52MP0001968_abnormal_touch/_nociception1.09246226
53MP0008872_abnormal_physiological_respon1.08004225
54MP0005253_abnormal_eye_physiology1.07543717
55MP0002452_abnormal_antigen_presenting1.05720673
56MP0006072_abnormal_retinal_apoptosis1.04965907
57MP0001764_abnormal_homeostasis1.04732072
58MP0005000_abnormal_immune_tolerance1.04416549
59MP0005025_abnormal_response_to1.03893110
60MP0008004_abnormal_stomach_pH1.03883629
61MP0009764_decreased_sensitivity_to1.01753385
62MP0008789_abnormal_olfactory_epithelium1.01692779
63MP0005266_abnormal_metabolism1.00937001
64MP0004381_abnormal_hair_follicle1.00932564
65MP0001188_hyperpigmentation1.00506842
66MP0003866_abnormal_defecation0.98477716
67MP0009840_abnormal_foam_cell0.98250883
68MP0001790_abnormal_immune_system0.95541442
69MP0005387_immune_system_phenotype0.95541442
70MP0000371_diluted_coat_color0.95228633
71MP0005083_abnormal_biliary_tract0.95144188
72MP0001529_abnormal_vocalization0.94024265
73MP0003698_abnormal_male_reproductive0.93978203
74MP0002928_abnormal_bile_duct0.90445572
75MP0003195_calcinosis0.90264587
76MP0002332_abnormal_exercise_endurance0.88870111
77MP0001501_abnormal_sleep_pattern0.88787407
78MP0001270_distended_abdomen0.88464430
79MP0001986_abnormal_taste_sensitivity0.88270402
80MP0009785_altered_susceptibility_to0.87428624
81MP0002229_neurodegeneration0.87378219
82MP0000716_abnormal_immune_system0.86487516
83MP0002419_abnormal_innate_immunity0.84731808
84MP0001486_abnormal_startle_reflex0.83830054
85MP0002277_abnormal_respiratory_mucosa0.82625669
86MP0002876_abnormal_thyroid_physiology0.81099796
87MP0000230_abnormal_systemic_arterial0.80597786
88MP0001502_abnormal_circadian_rhythm0.80504164
89MP0002405_respiratory_system_inflammati0.78409874
90MP0001929_abnormal_gametogenesis0.78150091
91MP0000689_abnormal_spleen_morphology0.77907386
92MP0001765_abnormal_ion_homeostasis0.76955380
93MP0001905_abnormal_dopamine_level0.76249620
94MP0005647_abnormal_sex_gland0.73715148
95MP0003122_maternal_imprinting0.73082300
96MP0002752_abnormal_somatic_nervous0.72579384
97MP0000631_abnormal_neuroendocrine_gland0.71898171
98MP0002938_white_spotting0.71831146
99MP0002398_abnormal_bone_marrow0.71249068
100MP0000427_abnormal_hair_cycle0.71178505

Predicted human phenotypes

RankGene SetZ-score
1Pancreatic cysts (HP:0001737)3.58249349
2Pancreatic fibrosis (HP:0100732)3.57505039
3Chronic hepatic failure (HP:0100626)3.43026460
4Cystic liver disease (HP:0006706)3.41934383
5Abnormality of DNA repair (HP:0003254)3.23224283
6Nephronophthisis (HP:0000090)3.22558381
7Tubulointerstitial nephritis (HP:0001970)3.20403324
8Abnormality of midbrain morphology (HP:0002418)3.08950089
9Molar tooth sign on MRI (HP:0002419)3.08950089
10Abnormality of the renal cortex (HP:0011035)3.07991612
11Abnormality of the columella (HP:0009929)3.07690305
12Absent rod-and cone-mediated responses on ERG (HP:0007688)2.97682993
13True hermaphroditism (HP:0010459)2.93262827
14Medial flaring of the eyebrow (HP:0010747)2.91911619
15Abnormality of the renal medulla (HP:0100957)2.81281227
16Severe combined immunodeficiency (HP:0004430)2.80836748
17Abnormal ciliary motility (HP:0012262)2.78967144
18Thyroiditis (HP:0100646)2.78202324
19Progressive cerebellar ataxia (HP:0002073)2.77608209
20Duplicated collecting system (HP:0000081)2.75124845
21Abnormality of the renal collecting system (HP:0004742)2.73402414
22Renal cortical cysts (HP:0000803)2.71856611
23Abnormality of lateral ventricle (HP:0030047)2.63549164
24Abnormal rod and cone electroretinograms (HP:0008323)2.56520402
25Abnormal respiratory epithelium morphology (HP:0012253)2.53331245
26Abnormal respiratory motile cilium morphology (HP:0005938)2.53331245
27Dynein arm defect of respiratory motile cilia (HP:0012255)2.51601537
28Absent/shortened dynein arms (HP:0200106)2.51601537
29Cerebellar dysplasia (HP:0007033)2.45947151
30Abnormal drinking behavior (HP:0030082)2.42557066
31Polydipsia (HP:0001959)2.42557066
32Abnormality of eosinophils (HP:0001879)2.28994905
33Panhypogammaglobulinemia (HP:0003139)2.27789604
34Nephrogenic diabetes insipidus (HP:0009806)2.24450860
35Hepatocellular necrosis (HP:0001404)2.21791577
36Congenital primary aphakia (HP:0007707)2.19431162
37Tented upper lip vermilion (HP:0010804)2.18656963
38Clumsiness (HP:0002312)2.16096028
39Bile duct proliferation (HP:0001408)2.15363061
40Abnormal biliary tract physiology (HP:0012439)2.15363061
41Congenital stationary night blindness (HP:0007642)2.12543030
42Enlarged kidneys (HP:0000105)2.11627979
43Metaphyseal dysplasia (HP:0100255)2.11478935
44Attenuation of retinal blood vessels (HP:0007843)2.10754655
45Retrobulbar optic neuritis (HP:0100654)2.10605603
46Optic neuritis (HP:0100653)2.10605603
47Ketosis (HP:0001946)2.10144118
48Abnormal respiratory motile cilium physiology (HP:0012261)2.10000556
49Congenital hepatic fibrosis (HP:0002612)2.08788190
50Gait imbalance (HP:0002141)2.08636484
51Poor coordination (HP:0002370)2.03911934
52Occipital encephalocele (HP:0002085)1.97700791
53Inability to walk (HP:0002540)1.95466735
54Febrile seizures (HP:0002373)1.94223289
55Elevated erythrocyte sedimentation rate (HP:0003565)1.93908256
56Abolished electroretinogram (ERG) (HP:0000550)1.93553399
57Type II lissencephaly (HP:0007260)1.93543269
58Progressive microcephaly (HP:0000253)1.91356459
59Tubular atrophy (HP:0000092)1.89120087
60Retinal dysplasia (HP:0007973)1.87318861
61Abnormal delayed hypersensitivity skin test (HP:0002963)1.87264012
62IgG deficiency (HP:0004315)1.86346333
63Absent thumb (HP:0009777)1.86318155
64Combined immunodeficiency (HP:0005387)1.86035570
65Abnormal mitochondria in muscle tissue (HP:0008316)1.85543525
66Abnormality of B cell number (HP:0010975)1.83313211
67Genital tract atresia (HP:0001827)1.83199342
68Polyuria (HP:0000103)1.82955338
69Recurrent fungal infections (HP:0002841)1.82339581
70Gaze-evoked nystagmus (HP:0000640)1.81287129
71Postaxial foot polydactyly (HP:0001830)1.81148694
72Median cleft lip (HP:0000161)1.81078528
73Chromsome breakage (HP:0040012)1.80638658
74Anencephaly (HP:0002323)1.78976382
75Stomach cancer (HP:0012126)1.78306806
76Recurrent cutaneous fungal infections (HP:0011370)1.75065457
77Chronic mucocutaneous candidiasis (HP:0002728)1.75065457
78Colitis (HP:0002583)1.74488110
79Keratitis (HP:0000491)1.71717473
80Bulbous nose (HP:0000414)1.71258852
81Tubulointerstitial abnormality (HP:0001969)1.70930982
82Hepatic necrosis (HP:0002605)1.70815736
83Stomatitis (HP:0010280)1.70532554
84Ulnar claw (HP:0001178)1.68838805
85Decreased central vision (HP:0007663)1.67739418
86Retinitis pigmentosa (HP:0000510)1.67737196
87Dicarboxylic aciduria (HP:0003215)1.67341269
88Abnormality of dicarboxylic acid metabolism (HP:0010995)1.67341269
89Pachygyria (HP:0001302)1.67165267
90Large for gestational age (HP:0001520)1.66190803
91Abnormal glycosylation (HP:0012345)1.66093684
92Abnormal isoelectric focusing of serum transferrin (HP:0003160)1.66093684
93Abnormal protein N-linked glycosylation (HP:0012347)1.66093684
94Abnormal protein glycosylation (HP:0012346)1.66093684
95Myositis (HP:0100614)1.65296274
96Vaginal atresia (HP:0000148)1.62594396
97Broad-based gait (HP:0002136)1.61756942
98Microvesicular hepatic steatosis (HP:0001414)1.61258803
99Rib fusion (HP:0000902)1.61052661
100Hypoplastic iliac wings (HP:0002866)1.61034746

Predicted kinase interactions (KEA)

RankGene SetZ-score
1PINK14.66870444
2FRK3.46452722
3MAP4K23.13867832
4TAOK33.01775413
5MARK32.80470573
6MAP4K12.53380514
7TXK2.33689482
8ZAK2.25106759
9AKT32.04021028
10OBSCN2.00045735
11MAP3K71.80172160
12BTK1.65871960
13MAPK151.64532404
14MAP2K71.59369674
15GRK11.51179381
16MAP3K41.47864464
17IKBKE1.46509201
18WNK41.43137809
19ADRBK21.42122301
20IKBKB1.41927813
21TNK21.40259177
22INSRR1.39923910
23MAP3K111.37071428
24MAPK131.36250016
25GRK61.32791946
26SGK4941.30889464
27SGK2231.30889464
28FES1.26797523
29SGK21.24454489
30ITK1.19294060
31BLK1.19140774
32SIK21.15355083
33PRKCQ1.10419679
34MAP3K131.09903690
35SYK1.08021180
36BMPR1B1.05816467
37KIT1.05757868
38STK381.05388130
39TBK11.04920921
40TIE11.02315521
41FGFR21.01860330
42NUAK11.01485749
43PTK2B0.98296501
44TLK10.96703365
45TEC0.92507970
46CSNK1A1L0.90132737
47PIK3CA0.88973713
48MAP2K40.87533859
49WNK30.87056868
50MATK0.86616839
51MAPKAPK30.81734352
52MAPK110.79859514
53DYRK1B0.77871626
54LCK0.77826307
55JAK30.75568763
56PAK30.75546399
57PRKD20.72760431
58GRK70.70447387
59CAMK10.70346178
60CSNK1G30.69434935
61OXSR10.68681523
62MAPK120.63690002
63ACVR1B0.63687724
64PDK20.62162896
65EPHA30.61764095
66SGK30.61594097
67PRKAA20.60706810
68NEK20.59630428
69PIK3CG0.59565997
70CAMK40.57780620
71CDK80.57556747
72CSNK1G10.57280250
73MAPK70.56975833
74LYN0.56917045
75MYLK0.56364584
76CAMKK20.56107963
77PRKAA10.55785055
78TYK20.54032392
79NTRK20.53681167
80MARK20.53543604
81CHUK0.52829620
82RPS6KA60.51966115
83KDR0.51543754
84MAP3K140.50573769
85NLK0.50485293
86CSF1R0.50270091
87BCKDK0.49652657
88CDK30.49415342
89ATR0.49177652
90FGR0.47005952
91DYRK30.46983601
92MAP2K20.46593422
93ZAP700.46200707
94HCK0.45955155
95JAK10.43361533
96RPS6KC10.42359935
97RPS6KL10.42359935
98CDC42BPA0.40958399
99CSNK1A10.39081060
100MAP2K60.39017557

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary immunodeficiency_Homo sapiens_hsa053402.97823187
2Fanconi anemia pathway_Homo sapiens_hsa034602.92941061
3Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.92567691
4Intestinal immune network for IgA production_Homo sapiens_hsa046722.49771850
5Butanoate metabolism_Homo sapiens_hsa006502.43912596
6Phototransduction_Homo sapiens_hsa047442.40729235
7Olfactory transduction_Homo sapiens_hsa047402.09217773
8Graft-versus-host disease_Homo sapiens_hsa053322.09211581
9ABC transporters_Homo sapiens_hsa020102.08618231
10Allograft rejection_Homo sapiens_hsa053302.02093246
11Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006012.00074087
12Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.98689726
13Other glycan degradation_Homo sapiens_hsa005111.97218206
14Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.96689343
15Regulation of autophagy_Homo sapiens_hsa041401.96390547
16Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.85431654
17Nitrogen metabolism_Homo sapiens_hsa009101.75306492
18Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.71807003
19Autoimmune thyroid disease_Homo sapiens_hsa053201.71783785
20alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.71623231
21Type I diabetes mellitus_Homo sapiens_hsa049401.60499573
22Asthma_Homo sapiens_hsa053101.58312102
23Linoleic acid metabolism_Homo sapiens_hsa005911.53519219
24Steroid hormone biosynthesis_Homo sapiens_hsa001401.44339464
25Homologous recombination_Homo sapiens_hsa034401.43530472
26NF-kappa B signaling pathway_Homo sapiens_hsa040641.39686821
27Tryptophan metabolism_Homo sapiens_hsa003801.34109620
28NOD-like receptor signaling pathway_Homo sapiens_hsa046211.33502895
29Staphylococcus aureus infection_Homo sapiens_hsa051501.32745570
30Antigen processing and presentation_Homo sapiens_hsa046121.32383240
31Peroxisome_Homo sapiens_hsa041461.29616403
32Circadian rhythm_Homo sapiens_hsa047101.28944556
33RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.21920100
34Primary bile acid biosynthesis_Homo sapiens_hsa001201.17130691
35Rheumatoid arthritis_Homo sapiens_hsa053231.14845546
36Chemical carcinogenesis_Homo sapiens_hsa052041.12824735
37Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.10153814
38Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.09934530
39T cell receptor signaling pathway_Homo sapiens_hsa046601.09503602
40Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.04091087
41Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.03211316
42Hematopoietic cell lineage_Homo sapiens_hsa046401.00858186
43Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.00282561
44Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.98723750
45Jak-STAT signaling pathway_Homo sapiens_hsa046300.96577731
46Taste transduction_Homo sapiens_hsa047420.93766578
47Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.88747282
48Leishmaniasis_Homo sapiens_hsa051400.88288981
49Osteoclast differentiation_Homo sapiens_hsa043800.87102486
50Herpes simplex infection_Homo sapiens_hsa051680.86459785
51Ether lipid metabolism_Homo sapiens_hsa005650.83580539
52Collecting duct acid secretion_Homo sapiens_hsa049660.81259966
53Glycosaminoglycan degradation_Homo sapiens_hsa005310.77605967
54Tuberculosis_Homo sapiens_hsa051520.74812479
55Arachidonic acid metabolism_Homo sapiens_hsa005900.73832597
56Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.72658338
57Carbohydrate digestion and absorption_Homo sapiens_hsa049730.72486844
58Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.70940315
59Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.70722524
60Ovarian steroidogenesis_Homo sapiens_hsa049130.69877194
61RNA degradation_Homo sapiens_hsa030180.68628444
62Vascular smooth muscle contraction_Homo sapiens_hsa042700.67932301
63Toll-like receptor signaling pathway_Homo sapiens_hsa046200.67876788
64Salivary secretion_Homo sapiens_hsa049700.65756520
65SNARE interactions in vesicular transport_Homo sapiens_hsa041300.65613728
66Lysine degradation_Homo sapiens_hsa003100.65249253
67Sulfur relay system_Homo sapiens_hsa041220.64470322
68Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.62766771
69Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.62161314
70Measles_Homo sapiens_hsa051620.59492958
71Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.58481284
72Lysosome_Homo sapiens_hsa041420.57806087
73Maturity onset diabetes of the young_Homo sapiens_hsa049500.54791276
74Oxytocin signaling pathway_Homo sapiens_hsa049210.53779559
75B cell receptor signaling pathway_Homo sapiens_hsa046620.53753812
76Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.53444676
77Retinol metabolism_Homo sapiens_hsa008300.52358813
78Calcium signaling pathway_Homo sapiens_hsa040200.51931301
79Mineral absorption_Homo sapiens_hsa049780.51167983
80Dorso-ventral axis formation_Homo sapiens_hsa043200.50896784
81Glycerophospholipid metabolism_Homo sapiens_hsa005640.50840334
82Renin secretion_Homo sapiens_hsa049240.49326735
83Influenza A_Homo sapiens_hsa051640.48315191
84Fatty acid degradation_Homo sapiens_hsa000710.46819500
85Legionellosis_Homo sapiens_hsa051340.46451579
86Circadian entrainment_Homo sapiens_hsa047130.46353188
87Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.45999669
88Type II diabetes mellitus_Homo sapiens_hsa049300.45141557
89Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.42507805
90Phagosome_Homo sapiens_hsa041450.42395411
91Aldosterone synthesis and secretion_Homo sapiens_hsa049250.40317290
92Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.40068066
93Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.39727341
94Insulin resistance_Homo sapiens_hsa049310.38806305
95Hedgehog signaling pathway_Homo sapiens_hsa043400.38710346
96Oxidative phosphorylation_Homo sapiens_hsa001900.38612451
97Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.38579181
98RNA polymerase_Homo sapiens_hsa030200.38012638
99Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.34644713
100Propanoate metabolism_Homo sapiens_hsa006400.33842369

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