PRH1

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: This gene encodes a member of the heterogeneous family of proline-rich salivary glycoproteins. The encoded preproprotein undergoes proteolytic processing to generate one or more mature isoforms before secretion from the parotid and submandibular/sublingual glands. Multiple distinct alleles of this locus including the parotid isoelectric-focusing variant slow (PIF-s), the parotid acidic protein (Pa), and the double band slow (Db-s) isoforms have been characterized. The reference genome encodes the Db-s allele. Certain alleles of this gene are associated with susceptibility to dental caries. This gene is located in a cluster of closely related salivary proline-rich proteins on chromosome 12. Co-transcription of this gene with adjacent genes has been observed. Alternate splicing of this gene results in multiple transcript variants encoding different isoforms. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1protein polyglutamylation (GO:0018095)4.66002453
2negative regulation of telomere maintenance (GO:0032205)4.06697808
3pyrimidine nucleobase catabolic process (GO:0006208)4.05753619
4response to pheromone (GO:0019236)4.05523779
5cellular ketone body metabolic process (GO:0046950)3.86145690
6platelet dense granule organization (GO:0060155)3.84432151
7DNA double-strand break processing (GO:0000729)3.82486854
8protein complex biogenesis (GO:0070271)3.70424640
9intraciliary transport (GO:0042073)3.69217393
10L-methionine biosynthetic process from methylthioadenosine (GO:0019509)3.68551940
11respiratory chain complex IV assembly (GO:0008535)3.67284410
12cullin deneddylation (GO:0010388)3.63246005
13fucose catabolic process (GO:0019317)3.62826673
14L-fucose metabolic process (GO:0042354)3.62826673
15L-fucose catabolic process (GO:0042355)3.62826673
16protein deneddylation (GO:0000338)3.59204070
17ketone body metabolic process (GO:1902224)3.49311293
18epithelial cilium movement (GO:0003351)3.48160976
19nucleobase catabolic process (GO:0046113)3.44272607
20mitochondrial respiratory chain complex assembly (GO:0033108)3.42168292
21regulation of telomere maintenance (GO:0032204)3.42050762
22mannosylation (GO:0097502)3.34149483
23mitochondrial respiratory chain complex I assembly (GO:0032981)3.32155164
24NADH dehydrogenase complex assembly (GO:0010257)3.32155164
25mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.32155164
26inositol phosphate catabolic process (GO:0071545)3.29793332
27single strand break repair (GO:0000012)3.29732820
28regulation of helicase activity (GO:0051095)3.27623576
29amino acid salvage (GO:0043102)3.27105631
30L-methionine salvage (GO:0071267)3.27105631
31L-methionine biosynthetic process (GO:0071265)3.27105631
32water-soluble vitamin biosynthetic process (GO:0042364)3.24972216
33cytochrome complex assembly (GO:0017004)3.22244977
34replication fork processing (GO:0031297)3.19252520
35protein localization to cilium (GO:0061512)3.18083763
36regulation of cilium movement (GO:0003352)3.17961313
37adenosine metabolic process (GO:0046085)3.17653511
38tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)3.16747767
39RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)3.16747767
40regulation of telomere maintenance via telomerase (GO:0032210)3.15940398
41iron-sulfur cluster assembly (GO:0016226)3.14124195
42metallo-sulfur cluster assembly (GO:0031163)3.14124195
43axoneme assembly (GO:0035082)3.12507690
44histone H2A acetylation (GO:0043968)3.09386144
45DNA damage response, detection of DNA damage (GO:0042769)3.08641671
46S-adenosylmethionine metabolic process (GO:0046500)3.05968117
47positive regulation of mitochondrial fission (GO:0090141)3.05842161
48sperm motility (GO:0030317)3.04531760
49DNA deamination (GO:0045006)2.93209006
50protein neddylation (GO:0045116)2.91170391
51branched-chain amino acid catabolic process (GO:0009083)2.91155145
52C-terminal protein lipidation (GO:0006501)2.90325832
53nonmotile primary cilium assembly (GO:0035058)2.89930425
54preassembly of GPI anchor in ER membrane (GO:0016254)2.89559901
55protein-cofactor linkage (GO:0018065)2.89039429
56epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)2.87764753
57limb bud formation (GO:0060174)2.86065966
58cilium organization (GO:0044782)2.85326689
59cilium assembly (GO:0042384)2.83614704
60GPI anchor metabolic process (GO:0006505)2.82695354
61regulation of glucokinase activity (GO:0033131)2.81909488
62regulation of hexokinase activity (GO:1903299)2.81909488
63peptidyl-histidine modification (GO:0018202)2.80358357
64rRNA catabolic process (GO:0016075)2.80049342
65anterograde synaptic vesicle transport (GO:0048490)2.78672125
66behavioral response to nicotine (GO:0035095)2.78602056
67cilium morphogenesis (GO:0060271)2.76940899
68RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)2.76795947
69polyol catabolic process (GO:0046174)2.76406096
70phosphorylated carbohydrate dephosphorylation (GO:0046838)2.75659506
71inositol phosphate dephosphorylation (GO:0046855)2.75659506
72C-terminal protein amino acid modification (GO:0018410)2.75382548
73photoreceptor cell maintenance (GO:0045494)2.69010305
74piRNA metabolic process (GO:0034587)2.66694198
75centriole replication (GO:0007099)2.64905422
76acrosome reaction (GO:0007340)2.64578954
77retinal cone cell development (GO:0046549)2.64201281
78ubiquinone biosynthetic process (GO:0006744)2.62822197
79reciprocal DNA recombination (GO:0035825)2.61961354
80reciprocal meiotic recombination (GO:0007131)2.61961354
81nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)2.61581237
82indolalkylamine metabolic process (GO:0006586)2.59961431
83establishment of protein localization to mitochondrial membrane (GO:0090151)2.58663333
84cilium movement (GO:0003341)2.58179009
85establishment of protein localization to Golgi (GO:0072600)2.56246220
86glycosphingolipid biosynthetic process (GO:0006688)2.54951973
87prenylation (GO:0097354)2.54947565
88protein prenylation (GO:0018342)2.54947565
89methionine biosynthetic process (GO:0009086)2.54066039
90ubiquinone metabolic process (GO:0006743)2.54061495
91somatic hypermutation of immunoglobulin genes (GO:0016446)2.52886289
92somatic diversification of immune receptors via somatic mutation (GO:0002566)2.52886289
93cell wall macromolecule catabolic process (GO:0016998)2.51405241
94regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)2.50972056
95regulation of mitotic spindle checkpoint (GO:1903504)2.50972056
96maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005)2.49302673
97C4-dicarboxylate transport (GO:0015740)2.48763467
98tRNA processing (GO:0008033)2.48761589
99detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)2.48247488
100neuronal action potential (GO:0019228)2.47740464

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1ZNF274_21170338_ChIP-Seq_K562_Hela3.76262146
2IGF1R_20145208_ChIP-Seq_DFB_Human3.14176767
3HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.92223863
4GBX2_23144817_ChIP-Seq_PC3_Human2.84227786
5KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.78370958
6POU3F2_20337985_ChIP-ChIP_501MEL_Human2.71437389
7HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.57553305
8FUS_26573619_Chip-Seq_HEK293_Human2.54379827
9ZFP57_27257070_Chip-Seq_ESCs_Mouse2.51981718
10GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.34483832
11GABP_17652178_ChIP-ChIP_JURKAT_Human2.29042719
12VDR_22108803_ChIP-Seq_LS180_Human2.27798170
13EST1_17652178_ChIP-ChIP_JURKAT_Human2.23988084
14CTBP2_25329375_ChIP-Seq_LNCAP_Human2.23073430
15E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.23046761
16NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.22139980
17TAF15_26573619_Chip-Seq_HEK293_Human2.22002651
18TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.16983312
19FLI1_27457419_Chip-Seq_LIVER_Mouse2.11884169
20FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse2.11628503
21EWS_26573619_Chip-Seq_HEK293_Human2.06385440
22P300_19829295_ChIP-Seq_ESCs_Human2.01988814
23CTBP1_25329375_ChIP-Seq_LNCAP_Human1.99432235
24CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.93350946
25GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.86312149
26SALL1_21062744_ChIP-ChIP_HESCs_Human1.84363115
27ELK1_19687146_ChIP-ChIP_HELA_Human1.72864096
28VDR_23849224_ChIP-Seq_CD4+_Human1.65858675
29PCGF2_27294783_Chip-Seq_ESCs_Mouse1.63538318
30CBP_20019798_ChIP-Seq_JUKART_Human1.63041331
31IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.63041331
32EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.62396473
33ER_23166858_ChIP-Seq_MCF-7_Human1.62375399
34MYC_18940864_ChIP-ChIP_HL60_Human1.58608618
35PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.51501740
36MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.51350275
37SRF_21415370_ChIP-Seq_HL-1_Mouse1.50114369
38AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.49677198
39SMAD4_21799915_ChIP-Seq_A2780_Human1.49371380
40PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.49133839
41UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.48512394
42TP53_22573176_ChIP-Seq_HFKS_Human1.48144710
43JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.47792242
44ELF1_17652178_ChIP-ChIP_JURKAT_Human1.45745340
45MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.43879192
46SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.36095492
47SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.33635174
48IRF1_19129219_ChIP-ChIP_H3396_Human1.31259471
49PADI4_21655091_ChIP-ChIP_MCF-7_Human1.30950544
50NR3C1_21868756_ChIP-Seq_MCF10A_Human1.30949379
51AR_25329375_ChIP-Seq_VCAP_Human1.30771568
52STAT3_23295773_ChIP-Seq_U87_Human1.30462596
53MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.30407900
54SMAD3_21741376_ChIP-Seq_EPCs_Human1.30391865
55SOX2_19829295_ChIP-Seq_ESCs_Human1.29388767
56NANOG_19829295_ChIP-Seq_ESCs_Human1.29388767
57SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.27513142
58OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.26904576
59TOP2B_26459242_ChIP-Seq_MCF-7_Human1.26901402
60BCAT_22108803_ChIP-Seq_LS180_Human1.25069290
61ETS1_20019798_ChIP-Seq_JURKAT_Human1.24976799
62FOXP3_21729870_ChIP-Seq_TREG_Human1.24440844
63ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.24083530
64EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.22340274
65TCF4_23295773_ChIP-Seq_U87_Human1.21542353
66PIAS1_25552417_ChIP-Seq_VCAP_Human1.21284290
67KLF5_20875108_ChIP-Seq_MESCs_Mouse1.20716126
68GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.20697809
69NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.20174416
70EZH2_27294783_Chip-Seq_NPCs_Mouse1.18800872
71CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.18306132
72POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.16026269
73TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.16026269
74FOXA1_25329375_ChIP-Seq_VCAP_Human1.14196210
75FOXA1_27270436_Chip-Seq_PROSTATE_Human1.14196210
76FLI1_21867929_ChIP-Seq_TH2_Mouse1.13482279
77TCF4_22108803_ChIP-Seq_LS180_Human1.13422087
78RNF2_27304074_Chip-Seq_NSC_Mouse1.13368807
79FOXA1_21572438_ChIP-Seq_LNCaP_Human1.13169712
80CBX2_27304074_Chip-Seq_ESCs_Mouse1.12066086
81AR_20517297_ChIP-Seq_VCAP_Human1.11634210
82PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.11327053
83RUNX2_22187159_ChIP-Seq_PCA_Human1.09738426
84SUZ12_27294783_Chip-Seq_NPCs_Mouse1.09434908
85ETV2_25802403_ChIP-Seq_MESCs_Mouse1.06868879
86NOTCH1_21737748_ChIP-Seq_TLL_Human1.06052777
87BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.05659789
88* TAL1_26923725_Chip-Seq_HPCs_Mouse1.04510164
89NFE2_27457419_Chip-Seq_LIVER_Mouse1.04314718
90CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.02812646
91PCGF2_27294783_Chip-Seq_NPCs_Mouse1.02350021
92* RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.02162946
93FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.01808971
94* NCOR_22424771_ChIP-Seq_293T_Human1.01663601
95FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse1.01647366
96POU5F1_16153702_ChIP-ChIP_HESCs_Human1.01193277
97CREB1_15753290_ChIP-ChIP_HEK293T_Human1.00426689
98CRX_20693478_ChIP-Seq_RETINA_Mouse0.99606371
99NANOG_18555785_Chip-Seq_ESCs_Mouse0.98229986
100REST_21632747_ChIP-Seq_MESCs_Mouse0.97983947

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008877_abnormal_DNA_methylation2.59199729
2MP0002102_abnormal_ear_morphology2.59067455
3MP0006072_abnormal_retinal_apoptosis2.48478492
4MP0003880_abnormal_central_pattern2.41420378
5MP0000372_irregular_coat_pigmentation2.38908500
6MP0006276_abnormal_autonomic_nervous2.36243436
7MP0002234_abnormal_pharynx_morphology2.29520309
8MP0002736_abnormal_nociception_after2.27935625
9MP0001968_abnormal_touch/_nociception2.26048727
10MP0001529_abnormal_vocalization2.22106076
11MP0006292_abnormal_olfactory_placode2.20687033
12MP0003787_abnormal_imprinting2.19894021
13MP0005551_abnormal_eye_electrophysiolog2.16102385
14MP0001984_abnormal_olfaction2.07101089
15MP0005075_abnormal_melanosome_morpholog1.99148310
16MP0009046_muscle_twitch1.96158228
17MP0005645_abnormal_hypothalamus_physiol1.96123974
18MP0005253_abnormal_eye_physiology1.96073672
19MP0005410_abnormal_fertilization1.94037227
20MP0004147_increased_porphyrin_level1.89728716
21MP0008058_abnormal_DNA_repair1.88416199
22MP0000569_abnormal_digit_pigmentation1.79911089
23MP0004270_analgesia1.77431257
24MP0005084_abnormal_gallbladder_morpholo1.77254795
25MP0004133_heterotaxia1.73256036
26MP0002837_dystrophic_cardiac_calcinosis1.72982323
27MP0003646_muscle_fatigue1.68336328
28MP0005646_abnormal_pituitary_gland1.67909621
29MP0002638_abnormal_pupillary_reflex1.64088567
30MP0008875_abnormal_xenobiotic_pharmacok1.63074083
31MP0009745_abnormal_behavioral_response1.62091350
32MP0008789_abnormal_olfactory_epithelium1.60612909
33MP0001986_abnormal_taste_sensitivity1.56320622
34MP0002163_abnormal_gland_morphology1.56061448
35MP0003122_maternal_imprinting1.52063131
36MP0003121_genomic_imprinting1.49687262
37MP0002751_abnormal_autonomic_nervous1.49334473
38MP0002938_white_spotting1.48292793
39MP0002272_abnormal_nervous_system1.47847184
40MP0002735_abnormal_chemical_nociception1.47482011
41MP0002822_catalepsy1.47222772
42MP0003195_calcinosis1.46524297
43MP0002876_abnormal_thyroid_physiology1.39941848
44MP0008872_abnormal_physiological_respon1.38158682
45MP0003011_delayed_dark_adaptation1.38033505
46MP0001764_abnormal_homeostasis1.37479170
47MP0009697_abnormal_copulation1.36474949
48MP0001501_abnormal_sleep_pattern1.35541860
49MP0000631_abnormal_neuroendocrine_gland1.34174226
50MP0000427_abnormal_hair_cycle1.34062280
51MP0005367_renal/urinary_system_phenotyp1.33482307
52MP0000516_abnormal_urinary_system1.33482307
53MP0005394_taste/olfaction_phenotype1.28789515
54MP0005499_abnormal_olfactory_system1.28789515
55MP0005379_endocrine/exocrine_gland_phen1.26817579
56MP0004043_abnormal_pH_regulation1.23654920
57MP0001486_abnormal_startle_reflex1.23123261
58MP0005386_behavior/neurological_phenoty1.20773522
59MP0004924_abnormal_behavior1.20773522
60MP0002557_abnormal_social/conspecific_i1.20281261
61MP0004142_abnormal_muscle_tone1.18974145
62MP0002733_abnormal_thermal_nociception1.15815897
63MP0002653_abnormal_ependyma_morphology1.15370629
64MP0010386_abnormal_urinary_bladder1.15279999
65MP0004885_abnormal_endolymph1.13228118
66MP0003698_abnormal_male_reproductive1.12915352
67MP0008995_early_reproductive_senescence1.10982625
68MP0002254_reproductive_system_inflammat1.10619041
69MP0002572_abnormal_emotion/affect_behav1.08251016
70MP0008775_abnormal_heart_ventricle1.07070206
71MP0001905_abnormal_dopamine_level1.05742154
72MP0003718_maternal_effect1.04057919
73MP0006036_abnormal_mitochondrial_physio1.04008408
74MP0002064_seizures1.02789401
75MP0000013_abnormal_adipose_tissue1.02573039
76MP0001929_abnormal_gametogenesis1.00154312
77MP0003786_premature_aging0.99393938
78MP0006035_abnormal_mitochondrial_morpho0.98672074
79MP0003137_abnormal_impulse_conducting0.96893662
80MP0003635_abnormal_synaptic_transmissio0.96720068
81MP0002734_abnormal_mechanical_nocicepti0.94716978
82MP0002909_abnormal_adrenal_gland0.94314146
83MP0001970_abnormal_pain_threshold0.94295437
84MP0002067_abnormal_sensory_capabilities0.90285180
85MP0000647_abnormal_sebaceous_gland0.87004411
86MP0005332_abnormal_amino_acid0.86018501
87MP0005423_abnormal_somatic_nervous0.85873037
88MP0002229_neurodegeneration0.84290954
89MP0002752_abnormal_somatic_nervous0.83824754
90MP0010094_abnormal_chromosome_stability0.83410865
91MP0002063_abnormal_learning/memory/cond0.81840727
92MP0004085_abnormal_heartbeat0.81667790
93MP0002090_abnormal_vision0.81045746
94MP0005195_abnormal_posterior_eye0.80892229
95MP0005174_abnormal_tail_pigmentation0.80514091
96MP0004215_abnormal_myocardial_fiber0.79328037
97MP0002095_abnormal_skin_pigmentation0.78280094
98MP0002184_abnormal_innervation0.75631992
99MP0000778_abnormal_nervous_system0.74070585
100MP0001963_abnormal_hearing_physiology0.73848303

Predicted human phenotypes

RankGene SetZ-score
1Nephronophthisis (HP:0000090)3.60448302
2Renal cortical cysts (HP:0000803)3.51012457
3Medial flaring of the eyebrow (HP:0010747)3.47555322
4Pancreatic cysts (HP:0001737)3.42804736
5Pancreatic fibrosis (HP:0100732)3.41027256
6Abnormality of the labia minora (HP:0012880)3.37489699
7Abnormality of the renal cortex (HP:0011035)3.21571975
8Abnormality of midbrain morphology (HP:0002418)3.21268575
9Molar tooth sign on MRI (HP:0002419)3.21268575
10True hermaphroditism (HP:0010459)3.14531466
11Acute necrotizing encephalopathy (HP:0006965)3.11584129
12Abnormality of the renal medulla (HP:0100957)3.11336944
13Gait imbalance (HP:0002141)3.06348022
14Congenital primary aphakia (HP:0007707)3.02723599
15Progressive macrocephaly (HP:0004481)2.89224290
16Increased CSF lactate (HP:0002490)2.86457221
17Mitochondrial inheritance (HP:0001427)2.85716813
18Nephrogenic diabetes insipidus (HP:0009806)2.85250074
19Tubulointerstitial nephritis (HP:0001970)2.84990615
203-Methylglutaconic aciduria (HP:0003535)2.82515120
21Methylmalonic acidemia (HP:0002912)2.80795389
22Acute encephalopathy (HP:0006846)2.78482721
23Hepatocellular necrosis (HP:0001404)2.76693428
24Abnormal mitochondria in muscle tissue (HP:0008316)2.75099154
25Hepatic necrosis (HP:0002605)2.71016658
26Hyperventilation (HP:0002883)2.65392005
27Congenital stationary night blindness (HP:0007642)2.61004830
28Chronic hepatic failure (HP:0100626)2.53113903
29Attenuation of retinal blood vessels (HP:0007843)2.51489467
30Hypothermia (HP:0002045)2.45796700
31Genital tract atresia (HP:0001827)2.41515681
32Intestinal atresia (HP:0011100)2.39122419
33Methylmalonic aciduria (HP:0012120)2.37147116
34Type 2 muscle fiber atrophy (HP:0003554)2.34483979
35Lissencephaly (HP:0001339)2.27229607
36Abnormal rod and cone electroretinograms (HP:0008323)2.27046213
37Aplasia/Hypoplasia of the tongue (HP:0010295)2.26856760
38Volvulus (HP:0002580)2.25880449
39Vaginal atresia (HP:0000148)2.22506086
40Pachygyria (HP:0001302)2.20015475
41Postaxial foot polydactyly (HP:0001830)2.19172550
42Cerebral edema (HP:0002181)2.18897616
43Short tibia (HP:0005736)2.18641330
44Inability to walk (HP:0002540)2.16011524
45Aplasia/Hypoplasia of the tibia (HP:0005772)2.14924990
46Optic disc pallor (HP:0000543)2.13162713
47Progressive microcephaly (HP:0000253)2.11924587
48Bile duct proliferation (HP:0001408)2.11626372
49Abnormal biliary tract physiology (HP:0012439)2.11626372
50Thyroiditis (HP:0100646)2.11479660
51Polyphagia (HP:0002591)2.05218425
52Abolished electroretinogram (ERG) (HP:0000550)2.04864477
53Postaxial hand polydactyly (HP:0001162)2.04554133
54Poor coordination (HP:0002370)2.00665844
55Increased serum lactate (HP:0002151)1.99461418
56Pendular nystagmus (HP:0012043)1.97494044
57Disproportionate short-trunk short stature (HP:0003521)1.96209565
58Abnormality of macular pigmentation (HP:0008002)1.95771667
59Aplasia/hypoplasia of the uterus (HP:0008684)1.94145923
60Type II lissencephaly (HP:0007260)1.94118390
61Cystic liver disease (HP:0006706)1.92161532
62Abnormality of vitamin B metabolism (HP:0004340)1.91712432
63Renal Fanconi syndrome (HP:0001994)1.91327174
64Muscle fiber atrophy (HP:0100295)1.91214199
65Absent speech (HP:0001344)1.89419972
66Severe visual impairment (HP:0001141)1.89131758
67Sclerocornea (HP:0000647)1.88255054
68Atonic seizures (HP:0010819)1.88106751
69Lactic acidosis (HP:0003128)1.87950969
70Gastrointestinal atresia (HP:0002589)1.87390698
71Absent/shortened dynein arms (HP:0200106)1.84124918
72Dynein arm defect of respiratory motile cilia (HP:0012255)1.84124918
73Increased hepatocellular lipid droplets (HP:0006565)1.83586300
74Broad foot (HP:0001769)1.82309155
75Failure to thrive in infancy (HP:0001531)1.81234045
76Congenital hepatic fibrosis (HP:0002612)1.81042492
77Thyroid-stimulating hormone excess (HP:0002925)1.80981781
78Gaze-evoked nystagmus (HP:0000640)1.80538675
79Progressive inability to walk (HP:0002505)1.79792150
80Lipid accumulation in hepatocytes (HP:0006561)1.79040904
81Abnormality of the metopic suture (HP:0005556)1.78656579
82Ketosis (HP:0001946)1.78383893
83Decreased electroretinogram (ERG) amplitude (HP:0000654)1.76836261
84Bony spicule pigmentary retinopathy (HP:0007737)1.76541381
85Focal motor seizures (HP:0011153)1.73415491
86Pancreatic islet-cell hyperplasia (HP:0004510)1.73346108
87Tubulointerstitial abnormality (HP:0001969)1.72046068
88Colon cancer (HP:0003003)1.72040690
89Retinal dysplasia (HP:0007973)1.71367938
90Broad-based gait (HP:0002136)1.70907653
91Dialeptic seizures (HP:0011146)1.70624298
92Severe combined immunodeficiency (HP:0004430)1.70197054
93Ependymoma (HP:0002888)1.70147350
94Poor suck (HP:0002033)1.69804393
95Tented upper lip vermilion (HP:0010804)1.69677889
96Hypoproteinemia (HP:0003075)1.69127200
97Opisthotonus (HP:0002179)1.67194812
98Abnormal protein glycosylation (HP:0012346)1.66033736
99Abnormal glycosylation (HP:0012345)1.66033736
100Abnormal protein N-linked glycosylation (HP:0012347)1.66033736

Predicted kinase interactions (KEA)

RankGene SetZ-score
1* MAP4K28.77128344
2FRK3.53838739
3WNK32.45560368
4PINK12.36382171
5INSRR2.36287840
6TAOK32.14183472
7TLK12.12849889
8NUAK12.05797327
9ZAK2.04054099
10MAPK132.03930041
11MAP3K41.81969417
12BMPR1B1.67627746
13MARK11.66622972
14BCKDK1.65971800
15TRIM281.64038359
16MAP2K71.62279840
17PLK41.60682523
18CASK1.53712565
19ADRBK21.49076161
20PLK21.42406782
21GRK11.40901596
22BCR1.37958800
23EIF2AK31.28427465
24MST41.26531988
25VRK11.24335177
26CSNK1G31.23487008
27NEK11.13483714
28CSNK1G21.12838275
29DYRK21.10177816
30ERBB31.09954721
31CSNK1G11.09772080
32SRPK11.05608470
33TAOK21.02279189
34CSNK1A1L0.98280608
35OXSR10.96623716
36MKNK10.92527955
37PAK30.89148973
38TNIK0.85745140
39STK38L0.82731694
40MKNK20.81933360
41PRKCE0.81346809
42RPS6KA40.81339625
43PLK30.79790900
44VRK20.79219076
45TXK0.75971948
46EPHA30.74557384
47MAP2K60.74338742
48TAF10.69599784
49PHKG10.68030063
50PHKG20.68030063
51EPHA40.67814178
52MINK10.67796105
53MAP3K120.66878350
54CCNB10.64919236
55MAPKAPK30.64101557
56FLT30.61688566
57STK160.60833940
58DAPK20.60194769
59CDK190.57549001
60MAP3K50.57363289
61DAPK10.56349420
62WNK40.56346041
63TIE10.55261788
64MAPKAPK50.54766022
65FGFR20.53856332
66BRSK20.53492018
67PRKCG0.51394544
68RPS6KA50.50784646
69MUSK0.47727848
70ACVR1B0.46533834
71TNK20.44675820
72STK390.40136098
73CLK10.39548272
74DYRK30.37219692
75DYRK1B0.36475715
76CDK80.36359844
77PIM20.35911821
78PRKD30.35602918
79KIT0.34922773
80TEC0.34498656
81ATR0.32344995
82ATM0.31787601
83ADRBK10.31381902
84* CSNK1A10.31023745
85PKN10.30100469
86FER0.29965794
87STK30.28396098
88PRKACA0.28240971
89PRKCQ0.28183043
90PLK10.28067763
91CAMK2A0.27986970
92KSR10.25731925
93DYRK1A0.25370316
94CSNK1D0.25098884
95MARK30.24540575
96PRKACB0.23072088
97MATK0.22993223
98MAP2K40.22347272
99PTK2B0.21661848
100PRKG10.21641205

Predicted pathways (KEGG)

RankGene SetZ-score
1Synthesis and degradation of ketone bodies_Homo sapiens_hsa000723.53187189
2Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.77760829
3Butanoate metabolism_Homo sapiens_hsa006502.59241212
4Oxidative phosphorylation_Homo sapiens_hsa001902.48204748
5Phototransduction_Homo sapiens_hsa047442.46569172
6Protein export_Homo sapiens_hsa030602.43479528
7RNA polymerase_Homo sapiens_hsa030202.33379302
8Propanoate metabolism_Homo sapiens_hsa006402.21763093
9Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.19373282
10Basal transcription factors_Homo sapiens_hsa030222.00384684
11Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.92902435
12Parkinsons disease_Homo sapiens_hsa050121.92095484
13Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.80591393
14Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.79770699
15Proteasome_Homo sapiens_hsa030501.77840983
16Fanconi anemia pathway_Homo sapiens_hsa034601.76267124
17Nicotine addiction_Homo sapiens_hsa050331.71743751
18Non-homologous end-joining_Homo sapiens_hsa034501.71034456
19Regulation of autophagy_Homo sapiens_hsa041401.62911772
20Homologous recombination_Homo sapiens_hsa034401.62514077
21Fatty acid elongation_Homo sapiens_hsa000621.59369194
22Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.56485799
23Peroxisome_Homo sapiens_hsa041461.50110888
24Maturity onset diabetes of the young_Homo sapiens_hsa049501.48820209
25Tryptophan metabolism_Homo sapiens_hsa003801.48651082
26alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.43158918
27RNA degradation_Homo sapiens_hsa030181.38317615
28Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.37585526
29Linoleic acid metabolism_Homo sapiens_hsa005911.37262378
30Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.35076442
31Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.32496112
32Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.31666962
33Huntingtons disease_Homo sapiens_hsa050161.25688402
34Ether lipid metabolism_Homo sapiens_hsa005651.25004863
35Selenocompound metabolism_Homo sapiens_hsa004501.21916459
36Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.16455633
37Mismatch repair_Homo sapiens_hsa034301.14428361
38Alzheimers disease_Homo sapiens_hsa050101.12229314
39Purine metabolism_Homo sapiens_hsa002301.09023646
40Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.08918112
41Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.08858172
42Olfactory transduction_Homo sapiens_hsa047401.08460755
43Steroid biosynthesis_Homo sapiens_hsa001001.08041292
44Taste transduction_Homo sapiens_hsa047421.07784531
45Caffeine metabolism_Homo sapiens_hsa002321.04722773
46Fatty acid metabolism_Homo sapiens_hsa012121.04199514
47Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.03987016
48Nitrogen metabolism_Homo sapiens_hsa009101.03052125
49Pyrimidine metabolism_Homo sapiens_hsa002401.02894908
50Chemical carcinogenesis_Homo sapiens_hsa052040.98457574
51Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.97138382
52Collecting duct acid secretion_Homo sapiens_hsa049660.94263670
53Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.92364429
54Fatty acid degradation_Homo sapiens_hsa000710.91292975
55Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.90758875
56Nucleotide excision repair_Homo sapiens_hsa034200.90591304
57GABAergic synapse_Homo sapiens_hsa047270.90525888
58beta-Alanine metabolism_Homo sapiens_hsa004100.89541680
59Circadian rhythm_Homo sapiens_hsa047100.86603739
60Asthma_Homo sapiens_hsa053100.86117782
61Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.84574909
62Metabolic pathways_Homo sapiens_hsa011000.82647822
63One carbon pool by folate_Homo sapiens_hsa006700.82385653
64Retinol metabolism_Homo sapiens_hsa008300.80702055
65Sulfur metabolism_Homo sapiens_hsa009200.79691873
66Morphine addiction_Homo sapiens_hsa050320.76757548
67Intestinal immune network for IgA production_Homo sapiens_hsa046720.76470243
68Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.75204959
69Type I diabetes mellitus_Homo sapiens_hsa049400.72922109
70* Salivary secretion_Homo sapiens_hsa049700.71775185
71Cysteine and methionine metabolism_Homo sapiens_hsa002700.70378003
72RNA transport_Homo sapiens_hsa030130.68866894
73Steroid hormone biosynthesis_Homo sapiens_hsa001400.67912652
74Base excision repair_Homo sapiens_hsa034100.67352444
75Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.66900979
76Cardiac muscle contraction_Homo sapiens_hsa042600.65082528
77Arachidonic acid metabolism_Homo sapiens_hsa005900.63572800
78Circadian entrainment_Homo sapiens_hsa047130.62842640
79Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.60256297
80Glycerolipid metabolism_Homo sapiens_hsa005610.60219965
81SNARE interactions in vesicular transport_Homo sapiens_hsa041300.60209215
82Primary bile acid biosynthesis_Homo sapiens_hsa001200.59352241
83Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.58865402
84Glutathione metabolism_Homo sapiens_hsa004800.57481822
85Spliceosome_Homo sapiens_hsa030400.57127116
86Primary immunodeficiency_Homo sapiens_hsa053400.56998130
87Pyruvate metabolism_Homo sapiens_hsa006200.56465575
88Pentose and glucuronate interconversions_Homo sapiens_hsa000400.56218334
89Insulin secretion_Homo sapiens_hsa049110.53476767
90Serotonergic synapse_Homo sapiens_hsa047260.44349619
91Fat digestion and absorption_Homo sapiens_hsa049750.43924059
92Oocyte meiosis_Homo sapiens_hsa041140.43365152
93Glutamatergic synapse_Homo sapiens_hsa047240.42612970
942-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.41426733
95Dopaminergic synapse_Homo sapiens_hsa047280.38438820
96Synaptic vesicle cycle_Homo sapiens_hsa047210.35782410
97Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.34894037
98Glycerophospholipid metabolism_Homo sapiens_hsa005640.33922627
99Alcoholism_Homo sapiens_hsa050340.33553342
100ABC transporters_Homo sapiens_hsa020100.32514176

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