SCGB1D2

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 protein encoded by this gene is a member of the lipophilin subfamily, part of the uteroglobin superfamily, and is an ortholog of prostatein, the major secretory glycoprotein of the rat ventral prostate gland. Lipophilin gene products are widely expressed in normal tissues, especially in endocrine-responsive organs. Assuming that human lipophilins are the functional counterparts of prostatein, they may be transcriptionally regulated by steroid hormones, with the ability to bind androgens, other steroids and possibly bind and concentrate estramustine, a chemotherapeutic agent widely used for prostate cancer. Although the gene has been reported to be on chromosome 10, this sequence appears to be from a cluster of genes on chromosome 11 that includes mammaglobin 2. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1tachykinin receptor signaling pathway (GO:0007217)8.56403420
2positive regulation of vascular permeability (GO:0043117)8.43459349
3regulation of gonadotropin secretion (GO:0032276)7.68669312
4prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527.38580175
5positive regulation of uterine smooth muscle contraction (GO:0070474)7.29742563
6positive regulation of neurotransmitter secretion (GO:0001956)7.11130067
7xenobiotic catabolic process (GO:0042178)7.07519803
8regulation of uterine smooth muscle contraction (GO:0070472)5.93189779
9prostate gland growth (GO:0060736)5.53560157
10mannosylation (GO:0097502)5.49899522
11endothelial cell chemotaxis (GO:0035767)5.40344058
12molting cycle (GO:0042303)5.28032885
13hair cycle (GO:0042633)5.28032885
14response to nitrosative stress (GO:0051409)5.05752634
15protein maturation by protein folding (GO:0022417)5.00365020
16platelet dense granule organization (GO:0060155)5.00010758
17regulation of calcineurin-NFAT signaling cascade (GO:0070884)4.95038151
18positive regulation of neurotransmitter transport (GO:0051590)4.92715338
19parturition (GO:0007567)4.86858762
20short-chain fatty acid metabolic process (GO:0046459)4.56968988
21cellular zinc ion homeostasis (GO:0006882)4.50332064
22regulation of branching involved in prostate gland morphogenesis (GO:0060687)4.49658489
23L-ascorbic acid metabolic process (GO:0019852)4.37128530
24regulation of triglyceride biosynthetic process (GO:0010866)4.29219572
25C21-steroid hormone biosynthetic process (GO:0006700)4.23721688
26GPI anchor biosynthetic process (GO:0006506)4.21883394
27phasic smooth muscle contraction (GO:0014821)4.02634790
28branching involved in prostate gland morphogenesis (GO:0060442)4.01093118
29negative regulation of protein autophosphorylation (GO:0031953)3.87724513
30toxin transport (GO:1901998)3.84555059
31regulation of protein glycosylation (GO:0060049)3.80743618
32regulation of phospholipase A2 activity (GO:0032429)3.79827599
33cell aggregation (GO:0098743)3.78604130
34cartilage condensation (GO:0001502)3.78604130
35glutathione derivative metabolic process (GO:1901685)3.67499417
36glutathione derivative biosynthetic process (GO:1901687)3.67499417
37GPI anchor metabolic process (GO:0006505)3.66620009
38sphingoid metabolic process (GO:0046519)3.63183570
39benzene-containing compound metabolic process (GO:0042537)3.60783005
40preassembly of GPI anchor in ER membrane (GO:0016254)3.55123414
41diol metabolic process (GO:0034311)3.54321259
42zinc ion homeostasis (GO:0055069)3.53646595
43cellular response to antibiotic (GO:0071236)3.52622478
44negative regulation of gluconeogenesis (GO:0045721)3.43453877
45regulation of cell proliferation involved in kidney development (GO:1901722)3.42384026
46zinc ion transport (GO:0006829)3.38626025
47cellular response to gonadotropin stimulus (GO:0071371)3.38283004
48synapsis (GO:0007129)3.35929903
49regulation of lipoprotein metabolic process (GO:0050746)3.32838846
50methionine biosynthetic process (GO:0009086)3.30590559
51positive regulation of glomerulus development (GO:0090193)3.29571447
52negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)3.28408754
53positive regulation of fibroblast migration (GO:0010763)3.23515570
54zinc ion transmembrane transport (GO:0071577)3.19115309
55regulation of triglyceride metabolic process (GO:0090207)3.18639903
56import into cell (GO:0098657)3.14863073
57cellular response to follicle-stimulating hormone stimulus (GO:0071372)3.13145617
58chemosensory behavior (GO:0007635)3.11467075
59positive regulation of metanephros development (GO:0072216)3.06855584
60protein heterotrimerization (GO:0070208)3.03835552
61removal of superoxide radicals (GO:0019430)3.02727648
62cellular response to superoxide (GO:0071451)3.02727648
63cellular response to oxygen radical (GO:0071450)3.02727648
64response to interferon-beta (GO:0035456)3.00773713
65water-soluble vitamin biosynthetic process (GO:0042364)2.98446451
66interleukin-1-mediated signaling pathway (GO:0070498)2.98400998
67hydrogen peroxide biosynthetic process (GO:0050665)2.94775792
68exogenous drug catabolic process (GO:0042738)2.91252641
69COPII vesicle coating (GO:0048208)2.89115014
70activation of NF-kappaB-inducing kinase activity (GO:0007250)2.88617203
71negative regulation of transcription by competitive promoter binding (GO:0010944)2.87614662
72epoxygenase P450 pathway (GO:0019373)2.84550392
73amine catabolic process (GO:0009310)2.82749830
74cellular biogenic amine catabolic process (GO:0042402)2.82749830
75positive regulation of glycoprotein biosynthetic process (GO:0010560)2.82738105
76iron ion import (GO:0097286)2.82023046
77negative regulation of complement activation (GO:0045916)2.81961521
78retina homeostasis (GO:0001895)2.81918692
79embryonic body morphogenesis (GO:0010172)2.81480046
80blastocyst development (GO:0001824)2.80409305
81viral mRNA export from host cell nucleus (GO:0046784)2.80075929
82positive regulation of glycoprotein metabolic process (GO:1903020)2.78835025
83negative regulation of adherens junction organization (GO:1903392)2.76556462
84negative regulation of focal adhesion assembly (GO:0051895)2.76556462
85negative regulation of cell junction assembly (GO:1901889)2.76556462
86protein homotrimerization (GO:0070207)2.74252405
87intestinal epithelial cell development (GO:0060576)2.68712051
88excretion (GO:0007588)2.68311206
89cell proliferation involved in kidney development (GO:0072111)2.67580325
90heart process (GO:0003015)2.65422496
91heart contraction (GO:0060047)2.65422496
92uterus development (GO:0060065)2.64578171
93ovulation from ovarian follicle (GO:0001542)2.62582697
94negative regulation of viral entry into host cell (GO:0046597)2.62562452
95positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)2.62114147
96sphingolipid catabolic process (GO:0030149)2.62112048
97epithelial cell maturation (GO:0002070)2.61692339
98membrane lipid catabolic process (GO:0046466)2.59183209
99regulation of gamma-delta T cell differentiation (GO:0045586)2.57505665
100reactive oxygen species biosynthetic process (GO:1903409)2.56488943

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse8.64054881
2STAT6_21828071_ChIP-Seq_BEAS2B_Human5.32953620
3ESR1_20079471_ChIP-ChIP_T-47D_Human5.17079633
4TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse3.85333335
5ESR1_21235772_ChIP-Seq_MCF-7_Human3.71854108
6ESR2_21235772_ChIP-Seq_MCF-7_Human3.39334586
7ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human3.24070410
8TRIM28_21343339_ChIP-Seq_HEK293_Human3.23620149
9FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human2.99319624
10IRF8_22096565_ChIP-ChIP_GC-B_Human2.82996315
11EGR1_23403033_ChIP-Seq_LIVER_Mouse2.78676554
12AHR_22903824_ChIP-Seq_MCF-7_Human2.57505674
13ZNF217_24962896_ChIP-Seq_MCF-7_Human2.31320779
14STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse2.15921172
15GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.09807871
16ARNT_22903824_ChIP-Seq_MCF-7_Human2.07444684
17RXR_22158963_ChIP-Seq_LIVER_Mouse1.94479323
18EGR1_19032775_ChIP-ChIP_M12_Human1.88595515
19IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.86278031
20CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.84821886
21SRY_22984422_ChIP-ChIP_TESTIS_Rat1.79442448
22TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.72182796
23ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.71103469
24GATA3_24758297_ChIP-Seq_MCF-7_Human1.70824923
25RUNX1_27514584_Chip-Seq_MCF-7_Human1.67055636
26TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.62207430
27PPARA_22158963_ChIP-Seq_LIVER_Mouse1.61626597
28RARG_19884340_ChIP-ChIP_MEFs_Mouse1.55321428
29SOX2_20726797_ChIP-Seq_SW620_Human1.54688611
30STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.54462435
31NCOR_22424771_ChIP-Seq_293T_Human1.52785104
32KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.51562421
33GATA3_22897851_ChIP-Seq_JUKARTE6-1_Human1.50300919
34FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.43136945
35PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.40210178
36* FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human1.34730848
37SOX2_27498859_Chip-Seq_STOMACH_Mouse1.29763406
38ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.29033364
39* IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.25461287
40* CBP_20019798_ChIP-Seq_JUKART_Human1.25461287
41HIF1A_21447827_ChIP-Seq_MCF-7_Human1.23803693
42BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.22221031
43CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.21919875
44GATA4_25053715_ChIP-Seq_YYC3_Human1.21664969
45ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.21539039
46GATA6_25053715_ChIP-Seq_YYC3_Human1.19483060
47FOXM1_26456572_ChIP-Seq_MCF-7_Human1.18110043
48CDX2_22108803_ChIP-Seq_LS180_Human1.16577690
49* FOXH1_21741376_ChIP-Seq_EPCs_Human1.13362189
50BMI1_19503595_ChIP-Seq_MEFsC_Mouse1.13023412
51* CBP_21632823_ChIP-Seq_H3396_Human1.12545059
52* CSB_26484114_Chip-Seq_FIBROBLAST_Human1.11545377
53JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.10412005
54* TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.10343887
55RACK7_27058665_Chip-Seq_MCF-7_Human1.10137404
56IKZF1_21737484_ChIP-ChIP_HCT116_Human1.09399244
57EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.08213426
58ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.06729907
59LXR_22158963_ChIP-Seq_LIVER_Mouse1.06315222
60GATA3_21878914_ChIP-Seq_MCF-7_Human1.06052905
61NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.02941202
62PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse1.02177714
63P63_26484246_Chip-Seq_KERATINOCYTES_Human0.99510175
64KLF5_20875108_ChIP-Seq_MESCs_Mouse0.97232515
65FOXA1_27270436_Chip-Seq_PROSTATE_Human0.96032913
66FOXA1_25329375_ChIP-Seq_VCAP_Human0.96032913
67ESR1_15608294_ChIP-ChIP_MCF-7_Human0.95927858
68TAF15_26573619_Chip-Seq_HEK293_Human0.94071983
69GATA3_26560356_Chip-Seq_TH2_Human0.93194663
70GBX2_23144817_ChIP-Seq_PC3_Human0.92182621
71EGR1_19374776_ChIP-ChIP_THP-1_Human0.92012039
72FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human0.88619602
73ELF5_23300383_ChIP-Seq_T47D_Human0.86528036
74STAT3_1855785_ChIP-Seq_MESCs_Mouse0.86399793
75NOTCH1_21737748_ChIP-Seq_TLL_Human0.82215528
76GATA6_21074721_ChIP-Seq_CACO-2_Mouse0.81991587
77ETV2_25802403_ChIP-Seq_MESCs_Mouse0.81122372
78BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.80710572
79* TFEB_21752829_ChIP-Seq_HELA_Human0.80062167
80CEBPB_22108803_ChIP-Seq_LS180_Human0.79490087
81AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.79456599
82CTCF_21964334_ChIP-Seq_BJAB-B_Human0.78965824
83FUS_26573619_Chip-Seq_HEK293_Human0.78545962
84JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.77327125
85CHD1_26751641_Chip-Seq_LNCaP_Human0.76809177
86ERA_21632823_ChIP-Seq_H3396_Human0.76791907
87BCL6_25482012_ChIP-Seq_CML-JURL-MK1_Human0.76499441
88E2F1_17053090_ChIP-ChIP_MCF-7_Human0.76071104
89FOXA1_26743006_Chip-Seq_LNCaP-abl_Human0.75577099
90CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.75060004
91AR_21572438_ChIP-Seq_LNCaP_Human0.74881538
92KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human0.74428142
93TDRD3_21172665_ChIP-Seq_MCF-7_Human0.74290228
94PPAR_26484153_Chip-Seq_NCI-H1993_Human0.73478605
95RXR_22108803_ChIP-Seq_LS180_Human0.71076743
96CEBPA_23403033_ChIP-Seq_LIVER_Mouse0.69804645
97FOXA2_19822575_ChIP-Seq_HepG2_Human0.69757678
98OCT1_27270436_Chip-Seq_PROSTATE_Human0.68715504
99ZIC3_20872845_ChIP-ChIP_MESCs_Mouse0.68008150
100* HOXB7_26014856_ChIP-Seq_BT474_Human0.66947014

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004381_abnormal_hair_follicle4.98080550
2MP0002254_reproductive_system_inflammat4.75854159
3MP0002822_catalepsy4.49936988
4MP0000372_irregular_coat_pigmentation4.35071591
5MP0003279_aneurysm3.84949691
6MP0001348_abnormal_lacrimal_gland3.43848120
7MP0009780_abnormal_chondrocyte_physiolo3.28906061
8MP0005646_abnormal_pituitary_gland3.21494013
9MP0002160_abnormal_reproductive_system3.19442817
10MP0010386_abnormal_urinary_bladder3.09677198
11MP0002282_abnormal_trachea_morphology2.92993157
12MP0005423_abnormal_somatic_nervous2.65845594
13MP0001881_abnormal_mammary_gland2.61913984
14MP0005389_reproductive_system_phenotype2.59961812
15MP0001919_abnormal_reproductive_system2.57582562
16MP0003638_abnormal_response/metabolism_2.23650976
17MP0008875_abnormal_xenobiotic_pharmacok2.16956549
18MP0008995_early_reproductive_senescence2.10181239
19MP0005647_abnormal_sex_gland2.06566094
20MP0000015_abnormal_ear_pigmentation1.96459989
21MP0000427_abnormal_hair_cycle1.84839451
22MP0002009_preneoplasia1.80063676
23MP0008872_abnormal_physiological_respon1.70916404
24MP0000767_abnormal_smooth_muscle1.70007369
25MP0004883_abnormal_blood_vessel1.67534959
26MP0010307_abnormal_tumor_latency1.66986368
27MP0005075_abnormal_melanosome_morpholog1.65025589
28MP0001542_abnormal_bone_strength1.58453795
29MP0005275_abnormal_skin_tensile1.53696140
30MP0005670_abnormal_white_adipose1.50781636
31MP0004019_abnormal_vitamin_homeostasis1.50611409
32MP0005085_abnormal_gallbladder_physiolo1.48832294
33MP0005083_abnormal_biliary_tract1.40355996
34MP0003252_abnormal_bile_duct1.38156882
35MP0006292_abnormal_olfactory_placode1.37883119
36MP0000377_abnormal_hair_follicle1.37773808
37MP0002938_white_spotting1.37680684
38MP0008961_abnormal_basal_metabolism1.37053779
39MP0002090_abnormal_vision1.28502319
40MP0002098_abnormal_vibrissa_morphology1.27068179
41MP0001243_abnormal_dermal_layer1.26351133
42MP0001666_abnormal_nutrient_absorption1.18040895
43MP0005365_abnormal_bile_salt1.17872396
44MP0000627_abnormal_mammary_gland1.17393012
45MP0000013_abnormal_adipose_tissue1.16011748
46MP0001177_atelectasis1.15374326
47MP0008004_abnormal_stomach_pH1.13273275
48MP0010234_abnormal_vibrissa_follicle1.08844388
49MP0003868_abnormal_feces_composition1.08516811
50MP0002736_abnormal_nociception_after1.07848228
51MP0003786_premature_aging1.06687100
52MP0000538_abnormal_urinary_bladder1.05206066
53MP0002166_altered_tumor_susceptibility1.03644405
54MP0003795_abnormal_bone_structure1.03169414
55MP0002108_abnormal_muscle_morphology1.01729144
56MP0008438_abnormal_cutaneous_collagen0.97792426
57MP0000367_abnormal_coat/_hair0.96218230
58MP0005023_abnormal_wound_healing0.93757666
59MP0000534_abnormal_ureter_morphology0.91870507
60MP0004264_abnormal_extraembryonic_tissu0.90748518
61MP0003828_pulmonary_edema0.90632315
62MP0002006_tumorigenesis0.90048584
63MP0005164_abnormal_response_to0.89459141
64MP0003938_abnormal_ear_development0.89165267
65MP0000371_diluted_coat_color0.87599772
66MP0000579_abnormal_nail_morphology0.87238762
67MP0010329_abnormal_lipoprotein_level0.87126385
68MP0005410_abnormal_fertilization0.86803651
69MP0002138_abnormal_hepatobiliary_system0.85326007
70MP0009785_altered_susceptibility_to0.83329090
71MP0000609_abnormal_liver_physiology0.80827879
72MP0002970_abnormal_white_adipose0.80304927
73MP0003011_delayed_dark_adaptation0.80072266
74MP0000762_abnormal_tongue_morphology0.78601703
75MP0008873_increased_physiological_sensi0.78577223
76MP0003195_calcinosis0.78018262
77MP0003191_abnormal_cellular_cholesterol0.73715814
78MP0002115_abnormal_skeleton_extremities0.71103960
79MP0005508_abnormal_skeleton_morphology0.70404433
80MP0002060_abnormal_skin_morphology0.69314943
81MP0002557_abnormal_social/conspecific_i0.69154098
82MP0005503_abnormal_tendon_morphology0.68585664
83MP0009840_abnormal_foam_cell0.67308777
84MP0000383_abnormal_hair_follicle0.66110895
85MP0003936_abnormal_reproductive_system0.65980524
86MP0000163_abnormal_cartilage_morphology0.65839907
87MP0000358_abnormal_cell_content/0.64862981
88MP0005174_abnormal_tail_pigmentation0.64423411
89MP0003959_abnormal_lean_body0.62067612
90MP0003690_abnormal_glial_cell0.60211172
91MP0003941_abnormal_skin_development0.60198983
92MP0001501_abnormal_sleep_pattern0.60069329
93MP0005645_abnormal_hypothalamus_physiol0.58600062
94MP0003755_abnormal_palate_morphology0.58388029
95MP0001119_abnormal_female_reproductive0.55529658
96MP0000566_synostosis0.55481729
97MP0009765_abnormal_xenobiotic_induced0.54745081
98MP0005379_endocrine/exocrine_gland_phen0.54374121
99MP0002118_abnormal_lipid_homeostasis0.54187685
100MP0001191_abnormal_skin_condition0.48187660

Predicted human phenotypes

RankGene SetZ-score
1Papilledema (HP:0001085)7.14810603
2Abnormal cartilage morphology (HP:0002763)6.57473410
3Ankyloglossia (HP:0010296)6.23316534
4Spontaneous abortion (HP:0005268)5.92086528
5Tented upper lip vermilion (HP:0010804)5.69992646
6Chronic sinusitis (HP:0011109)5.63843032
7Pulmonary artery stenosis (HP:0004415)4.98377025
8Aplasia of the musculature (HP:0100854)4.83582433
9Nasal speech (HP:0001611)4.80574934
10Recurrent bronchitis (HP:0002837)4.69065464
11Slender build (HP:0001533)4.68456474
12Abnormality of oral frenula (HP:0000190)4.60573104
13Large eyes (HP:0001090)4.42488378
14Aplasia/Hypoplasia involving the musculature (HP:0001460)4.24667718
15Flat capital femoral epiphysis (HP:0003370)4.12630533
16Concave nail (HP:0001598)4.12496272
17Abnormality of placental membranes (HP:0011409)3.99496998
18Amniotic constriction ring (HP:0009775)3.99496998
19Abnormality of the epiphyses of the phalanges of the hand (HP:0005920)3.95605866
20Sparse lateral eyebrow (HP:0005338)3.83708606
21Albinism (HP:0001022)3.82065981
22Deep philtrum (HP:0002002)3.68875621
23Parakeratosis (HP:0001036)3.65829151
24Short hallux (HP:0010109)3.65379093
25Ependymoma (HP:0002888)3.47144536
26Large earlobe (HP:0009748)3.36063917
27Glossoptosis (HP:0000162)3.34531896
28Aplasia/Hypoplasia of the hallux (HP:0008362)3.31821000
29Aplasia/Hypoplasia of the vertebrae (HP:0008515)3.30362216
30Vertebral hypoplasia (HP:0008417)3.30362216
31Abnormality involving the epiphyses of the upper limbs (HP:0003839)3.25718390
32Abnormality of the epiphyses of the hand (HP:0005924)3.19873157
33Generalized amyotrophy (HP:0003700)3.11474486
34Hypoplastic pelvis (HP:0008839)3.11042771
35Tracheal stenosis (HP:0002777)3.04160745
36Anteriorly placed anus (HP:0001545)2.98586133
37Bronchitis (HP:0012387)2.96390964
38Hyperkalemia (HP:0002153)2.86079134
39Epiphyseal stippling (HP:0010655)2.81990435
40Abnormality of the salivary glands (HP:0010286)2.63216826
41Increased neuronal autofluorescent lipopigment (HP:0002074)2.60658363
42Pseudobulbar signs (HP:0002200)2.59937125
43Coronal craniosynostosis (HP:0004440)2.58237393
44Hip dysplasia (HP:0001385)2.56552399
45Abnormality of carpal bone ossification (HP:0006257)2.56488998
46Long palpebral fissure (HP:0000637)2.47550774
47Infantile muscular hypotonia (HP:0008947)2.40994606
48Decreased electroretinogram (ERG) amplitude (HP:0000654)2.34120377
49Hypochromic microcytic anemia (HP:0004840)2.29106970
50Neonatal short-limb short stature (HP:0008921)2.24723995
51Abnormal delivery (HP:0001787)2.24042465
52Loss of speech (HP:0002371)2.23956697
53Nasolacrimal duct obstruction (HP:0000579)2.23704459
54Generalized hypopigmentation (HP:0007513)2.19421556
55Spinal rigidity (HP:0003306)2.19136375
56Axonal loss (HP:0003447)2.18962192
57Easy fatigability (HP:0003388)2.18406765
58Microcytic anemia (HP:0001935)2.16348168
59Increased cerebral lipofuscin (HP:0011813)2.13428297
60Aplasia/Hypoplasia involving the vertebral column (HP:0008518)2.13336684
61Abnormality of the astrocytes (HP:0100707)2.12127698
62Astrocytoma (HP:0009592)2.12127698
63Abnormal pupillary function (HP:0007686)2.02924997
64Midface retrusion (HP:0011800)2.01803853
65Congenital ichthyosiform erythroderma (HP:0007431)2.01667633
66Hypokinesia (HP:0002375)2.00009475
67Stillbirth (HP:0003826)1.99287459
68Volvulus (HP:0002580)1.93521904
69Shawl scrotum (HP:0000049)1.93233496
70Diaphragmatic weakness (HP:0009113)1.89813040
71Hypotrichosis (HP:0001006)1.86639903
72Woolly hair (HP:0002224)1.86511708
73Hypoparathyroidism (HP:0000829)1.86196675
74Broad nasal tip (HP:0000455)1.85126822
75Cone-shaped epiphyses of the phalanges of the hand (HP:0010230)1.84891997
76Abnormality of nail color (HP:0100643)1.84525472
77Abnormal hand bone ossification (HP:0010660)1.84129644
78Duplicated collecting system (HP:0000081)1.84081335
79Short distal phalanx of finger (HP:0009882)1.82880720
80Alopecia of scalp (HP:0002293)1.81521370
81Short thumb (HP:0009778)1.81126666
82Chondrocalcinosis (HP:0000934)1.80517748
83Renal tubular acidosis (HP:0001947)1.77956038
84Myelomeningocele (HP:0002475)1.77333610
85Asplenia (HP:0001746)1.77136028
86Underdeveloped nasal alae (HP:0000430)1.76600458
87Ocular albinism (HP:0001107)1.74875960
88Abnormal ossification of hand bones (HP:0005921)1.73521635
89Hypoplastic left heart (HP:0004383)1.72563971
90Abnormality of Sharpey fibers (HP:0100685)1.71739221
91Abnormal epiphyseal ossification (HP:0010656)1.69975775
92Hypochromic anemia (HP:0001931)1.69260338
93Abnormality of the renal collecting system (HP:0004742)1.68441542
94Abnormality of the lacrimal duct (HP:0011481)1.68158243
95Hypoplastic scapulae (HP:0000882)1.61596385
96Aplasia/Hypoplasia of the scapulae (HP:0006713)1.61596385
97Tapered finger (HP:0001182)1.61426769
98Megalocornea (HP:0000485)1.61315428
99Hypoplasia of the odontoid process (HP:0003311)1.60083096
100Abnormality of the pupil (HP:0000615)1.53385763

Predicted kinase interactions (KEA)

RankGene SetZ-score
1FER8.18940218
2PAK35.94299523
3PRKCI3.78228341
4PTK23.62617156
5FGFR13.18793508
6EIF2AK32.69047618
7MAP2K12.52172735
8LRRK22.45798599
9NEK62.42904700
10LATS22.03547897
11MST42.01224973
12ERBB31.94847420
13GSK3A1.92388133
14RIPK11.90334788
15CHUK1.62123170
16PAK11.58044039
17EIF2AK11.49869514
18NME11.46604447
19PIK3CA1.46233027
20PRKD11.44764343
21MAPKAPK31.33615815
22STK391.27464580
23IKBKE1.25656270
24FRK1.22539049
25RPS6KA21.20357328
26DMPK1.13380349
27MAP2K61.09847034
28RPS6KA61.08843624
29CSNK1G11.06991284
30RPS6KL11.03295068
31RPS6KC11.03295068
32WEE11.03011192
33CSNK1G30.97127533
34TLK10.96848920
35AKT30.94993477
36SIK10.86550971
37MST1R0.84406172
38AKT20.80632657
39MELK0.80396100
40FGFR20.76811833
41GRK10.73675253
42MARK20.71326786
43OXSR10.68628021
44STK38L0.65292596
45MAPK70.64894954
46ERN10.64342676
47TAOK30.64204231
48IKBKB0.63238134
49ABL10.61501909
50CSNK1G20.58945512
51MAPK150.57206580
52MAPK90.56808887
53EIF2AK20.55675689
54PDK20.55675064
55MAP2K20.54705439
56MAPK40.54147518
57IGF1R0.53567594
58EPHA20.52027458
59TNK20.50541729
60TIE10.50386743
61RPS6KB10.49584704
62TEC0.49437651
63PDGFRA0.48667382
64CDK70.47400979
65CSNK1E0.47335403
66TRIM280.44138781
67INSR0.43739232
68MAP3K140.42886767
69MYLK0.42598857
70MAPK30.42186835
71PDGFRB0.40674603
72ABL20.40536806
73MAP3K60.39505312
74JAK10.39242065
75MAPKAPK20.39095064
76CASK0.38879296
77RPS6KA10.37936642
78HIPK20.37765178
79GRK60.36244024
80TYRO30.31780791
81PRKCQ0.30746301
82MAP3K70.27514958
83NLK0.27306997
84PAK20.25618233
85MAPK120.25091321
86FGFR30.25013516
87DYRK1A0.24546806
88SRC0.24465365
89MAPK10.21170924
90MAP2K30.21055243
91ZAP700.20384131
92BMPR20.20380099
93GSK3B0.19944886
94PRKCZ0.19445412
95STK380.17996321
96TESK10.17261043
97MTOR0.16728422
98STK100.15882692
99CSNK1A10.15810519
100KIT0.15659401

Predicted pathways (KEGG)

RankGene SetZ-score
1Sulfur metabolism_Homo sapiens_hsa009205.52399220
2Fatty acid elongation_Homo sapiens_hsa000624.37194555
3Pantothenate and CoA biosynthesis_Homo sapiens_hsa007703.61895303
4Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005633.49839572
5Sulfur relay system_Homo sapiens_hsa041223.39594789
6Drug metabolism - cytochrome P450_Homo sapiens_hsa009823.02639624
7Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010402.94356821
8Chemical carcinogenesis_Homo sapiens_hsa052042.36801758
9Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009802.30658235
10Primary bile acid biosynthesis_Homo sapiens_hsa001202.04505994
11Glutathione metabolism_Homo sapiens_hsa004802.01934485
12Collecting duct acid secretion_Homo sapiens_hsa049661.94024873
13Vitamin B6 metabolism_Homo sapiens_hsa007501.82215829
14Propanoate metabolism_Homo sapiens_hsa006401.66866269
15Sphingolipid metabolism_Homo sapiens_hsa006001.65444293
16Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.64522251
17Pathogenic Escherichia coli infection_Homo sapiens_hsa051301.63411194
18Shigellosis_Homo sapiens_hsa051311.63210003
19Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.56085505
20Peroxisome_Homo sapiens_hsa041461.48803864
21Retinol metabolism_Homo sapiens_hsa008301.41704771
22Nitrogen metabolism_Homo sapiens_hsa009101.41556887
23Complement and coagulation cascades_Homo sapiens_hsa046101.31604126
24Dorso-ventral axis formation_Homo sapiens_hsa043201.30511909
25Oxidative phosphorylation_Homo sapiens_hsa001901.30008770
26Proteasome_Homo sapiens_hsa030501.28947587
27Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.27227780
28Steroid hormone biosynthesis_Homo sapiens_hsa001401.24145674
29Fatty acid degradation_Homo sapiens_hsa000711.22886377
30Starch and sucrose metabolism_Homo sapiens_hsa005001.19494468
31Histidine metabolism_Homo sapiens_hsa003401.18604865
32Linoleic acid metabolism_Homo sapiens_hsa005911.17311391
33Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.15300735
34Fatty acid metabolism_Homo sapiens_hsa012121.14009717
35beta-Alanine metabolism_Homo sapiens_hsa004101.12267971
36Circadian rhythm_Homo sapiens_hsa047101.10106428
37Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.09487912
38Ovarian steroidogenesis_Homo sapiens_hsa049131.09219709
39Tryptophan metabolism_Homo sapiens_hsa003801.08442591
40One carbon pool by folate_Homo sapiens_hsa006701.06548224
41Tyrosine metabolism_Homo sapiens_hsa003501.03995028
42Phenylalanine metabolism_Homo sapiens_hsa003601.00006811
43Tight junction_Homo sapiens_hsa045300.99665988
44Steroid biosynthesis_Homo sapiens_hsa001000.98200417
45Protein export_Homo sapiens_hsa030600.98103724
46Vibrio cholerae infection_Homo sapiens_hsa051100.97524166
47Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.95553147
48Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.92423191
49N-Glycan biosynthesis_Homo sapiens_hsa005100.90632568
50Mineral absorption_Homo sapiens_hsa049780.90136659
51Cysteine and methionine metabolism_Homo sapiens_hsa002700.82431762
52Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.77345245
53Hepatitis C_Homo sapiens_hsa051600.77089005
54Arachidonic acid metabolism_Homo sapiens_hsa005900.76478017
55Phototransduction_Homo sapiens_hsa047440.74709683
56Fructose and mannose metabolism_Homo sapiens_hsa000510.74177118
57Butanoate metabolism_Homo sapiens_hsa006500.72646242
58Bile secretion_Homo sapiens_hsa049760.71704538
59Caffeine metabolism_Homo sapiens_hsa002320.71525978
60Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.68786506
61B cell receptor signaling pathway_Homo sapiens_hsa046620.67647960
62Parkinsons disease_Homo sapiens_hsa050120.62961848
63alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.57185720
64Pentose and glucuronate interconversions_Homo sapiens_hsa000400.55866610
65Synaptic vesicle cycle_Homo sapiens_hsa047210.48587736
66Alzheimers disease_Homo sapiens_hsa050100.47860479
67Proteoglycans in cancer_Homo sapiens_hsa052050.46897484
68Metabolic pathways_Homo sapiens_hsa011000.45177109
69Pertussis_Homo sapiens_hsa051330.44490441
70Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.41364878
71ABC transporters_Homo sapiens_hsa020100.41099666
72Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.38786385
73Fanconi anemia pathway_Homo sapiens_hsa034600.38655960
74Fatty acid biosynthesis_Homo sapiens_hsa000610.35775756
75Arginine and proline metabolism_Homo sapiens_hsa003300.33926889
76Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.33240066
77TNF signaling pathway_Homo sapiens_hsa046680.32456855
78T cell receptor signaling pathway_Homo sapiens_hsa046600.31887738
79Amoebiasis_Homo sapiens_hsa051460.28238231
80Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.26663642
81mTOR signaling pathway_Homo sapiens_hsa041500.25788358
82Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.25448669
83Vitamin digestion and absorption_Homo sapiens_hsa049770.24728787
84Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.24604146
85Rheumatoid arthritis_Homo sapiens_hsa053230.24029077
86Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.23292976
87Serotonergic synapse_Homo sapiens_hsa047260.23272806
88Prostate cancer_Homo sapiens_hsa052150.22854721
89PPAR signaling pathway_Homo sapiens_hsa033200.22468465
90Focal adhesion_Homo sapiens_hsa045100.18792093
91Leukocyte transendothelial migration_Homo sapiens_hsa046700.18273069
92Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.17797749
93Glycosaminoglycan degradation_Homo sapiens_hsa005310.17362719
94Pyruvate metabolism_Homo sapiens_hsa006200.17294384
95Prolactin signaling pathway_Homo sapiens_hsa049170.16397740
96Prion diseases_Homo sapiens_hsa050200.16374492
97Adherens junction_Homo sapiens_hsa045200.15636485
98Sphingolipid signaling pathway_Homo sapiens_hsa040710.15095886
99Glycerolipid metabolism_Homo sapiens_hsa005610.10349534
100Fat digestion and absorption_Homo sapiens_hsa049750.09569110

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