DAZ4

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 is a member of the DAZ gene family and is a candidate for the human Y-chromosomal azoospermia factor (AZF). Its expression is restricted to premeiotic germ cells, particularly in spermatogonia. It encodes an RNA-binding protein that is important for spermatogenesis. Four copies of this gene are found on chromosome Y within palindromic duplications; one pair of genes is part of the P2 palindrome and the second pair is part of the P1 palindrome. Each gene contains a 2.4 kb repeat including a 72-bp exon, called the DAZ repeat; the number of DAZ repeats is variable and there are several variations in the sequence of the DAZ repeat. Each copy of the gene also contains a 10.8 kb region that may be amplified; this region includes five exons that encode an RNA recognition motif (RRM) domain. This gene contains two copies of the 10.8 kb repeat. Alternatively spliced transcript variants encoding different isoforms have been described. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1mesenchyme development (GO:0060485)7.88926355
2mesoderm development (GO:0007498)7.76647917
3negative regulation of transcription by competitive promoter binding (GO:0010944)6.28897426
4gonadal mesoderm development (GO:0007506)53.7627806
5negative regulation of digestive system process (GO:0060457)5.98918474
6positive regulation of translational initiation (GO:0045948)5.44509316
7negative regulation of epidermal cell differentiation (GO:0045605)5.12936382
8sex differentiation (GO:0007548)4.88075789
9lung secretory cell differentiation (GO:0061140)4.84678227
10nucleosome assembly (GO:0006334)4.50996318
11negative regulation of Notch signaling pathway (GO:0045746)4.23102336
12COPI coating of Golgi vesicle (GO:0048205)4.14825882
13Golgi transport vesicle coating (GO:0048200)4.14825882
14negative regulation of epidermis development (GO:0045683)4.08317677
15N-acetylneuraminate metabolic process (GO:0006054)3.89842397
16nucleosome organization (GO:0034728)3.86212816
17morphogenesis of an epithelial fold (GO:0060571)3.85147057
18protein-DNA complex assembly (GO:0065004)3.74760579
19negative regulation of necroptotic process (GO:0060546)3.69746742
20heart trabecula formation (GO:0060347)3.33156679
21protein-DNA complex subunit organization (GO:0071824)3.31113123
22glandular epithelial cell differentiation (GO:0002067)3.19595844
23histone H2B ubiquitination (GO:0033523)3.15691068
24ribosomal small subunit biogenesis (GO:0042274)3.13573259
25calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules (GO:0016338)3.04688211
26negative regulation of necrotic cell death (GO:0060547)2.94063197
27negative regulation of DNA-templated transcription, elongation (GO:0032785)2.90447398
28labyrinthine layer blood vessel development (GO:0060716)2.81104202
29negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)2.77696231
30regulation of keratinocyte differentiation (GO:0045616)2.64286958
31regulation of necroptotic process (GO:0060544)2.64046819
32positive regulation of mitochondrial membrane permeability (GO:0035794)2.62385169
33ER overload response (GO:0006983)2.60922717
34embryonic digestive tract morphogenesis (GO:0048557)2.58019232
35amyloid precursor protein catabolic process (GO:0042987)2.56524787
36regulation of macrophage activation (GO:0043030)2.52450594
37negative regulation of epithelial cell differentiation (GO:0030857)2.47986859
38protein retention in ER lumen (GO:0006621)2.44469958
39positive regulation of protein homooligomerization (GO:0032464)2.42844894
40maintenance of protein localization in endoplasmic reticulum (GO:0035437)2.33685675
41retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)2.22408731
42mitochondrial calcium ion transport (GO:0006851)2.16087361
43regulation of chromatin binding (GO:0035561)2.15255464
44regulation of cell maturation (GO:1903429)2.14935879
45negative regulation of epithelial to mesenchymal transition (GO:0010719)2.12576728
46lung epithelial cell differentiation (GO:0060487)2.11727943
47tongue development (GO:0043586)2.11404968
48amyloid precursor protein metabolic process (GO:0042982)2.10982466
49trabecula formation (GO:0060343)2.10055164
50regulation of keratinocyte proliferation (GO:0010837)2.08766335
51negative regulation of glycogen biosynthetic process (GO:0045719)2.07800285
52membrane protein ectodomain proteolysis (GO:0006509)2.07400884
53reproductive structure development (GO:0048608)2.06099980
54apoptotic cell clearance (GO:0043277)2.04825343
55lung cell differentiation (GO:0060479)2.04631590
56interleukin-6-mediated signaling pathway (GO:0070102)2.04558724
57protein targeting to plasma membrane (GO:0072661)2.03457989
58regulation of epidermal cell differentiation (GO:0045604)2.02676922
59regulation of translational fidelity (GO:0006450)2.02587896
60positive regulation of protein oligomerization (GO:0032461)2.02439810
61cellular sodium ion homeostasis (GO:0006883)1.96828041
62receptor recycling (GO:0001881)1.94351035
63COPII vesicle coating (GO:0048208)1.92992104
64regulation of activation of Janus kinase activity (GO:0010533)1.92798963
65membrane protein intracellular domain proteolysis (GO:0031293)1.90509122
66protein K48-linked deubiquitination (GO:0071108)1.89637777
67regulation of translational initiation (GO:0006446)1.87665232
68vesicle targeting (GO:0006903)1.87584248
69receptor guanylyl cyclase signaling pathway (GO:0007168)1.87016668
70dendritic spine organization (GO:0097061)1.86685580
71regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:19022351.85865027
72rRNA modification (GO:0000154)1.85096190
73rRNA methylation (GO:0031167)1.84261642
74positive regulation of mitochondrial membrane permeability involved in apoptotic process (GO:19021101.83738220
75mitochondrial outer membrane permeabilization involved in programmed cell death (GO:1902686)1.83738220
76placenta blood vessel development (GO:0060674)1.83034658
77tight junction assembly (GO:0070830)1.82493681
78activation of signaling protein activity involved in unfolded protein response (GO:0006987)1.81071176
79* spermatogenesis (GO:0007283)1.79622754
80mitochondrial fusion (GO:0008053)1.79439975
81* male gamete generation (GO:0048232)1.78536519
82protein K63-linked deubiquitination (GO:0070536)1.78346863
83regulation of necrotic cell death (GO:0010939)1.76700666
84regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)1.76304204
85L-serine transport (GO:0015825)1.75487274
86regulation of nuclease activity (GO:0032069)1.75469313
87positive regulation of nuclease activity (GO:0032075)1.74220247
88regulation of transcription elongation from RNA polymerase II promoter (GO:0034243)1.73294125
89protein localization to endoplasmic reticulum (GO:0070972)1.72918783
90translational elongation (GO:0006414)1.72628730
91regulation of digestive system process (GO:0044058)1.72269790
92SRP-dependent cotranslational protein targeting to membrane (GO:0006614)1.72223570
93negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)1.71709951
94formation of translation preinitiation complex (GO:0001731)1.70567540
95protein insertion into membrane (GO:0051205)1.70349231
96intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)1.69030439
97positive regulation of viral genome replication (GO:0045070)1.68523567
98protein targeting to ER (GO:0045047)1.67553047
99endoplasmic reticulum unfolded protein response (GO:0030968)1.67259565
100regulation of defense response to virus by virus (GO:0050690)1.67149648

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1NOTCH1_17114293_ChIP-ChIP_T-ALL_Human4.56950351
2TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat4.23468316
3EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse3.85139450
4MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse3.74395737
5HCFC1_20581084_ChIP-Seq_MESCs_Mouse3.50161822
6GABP_17652178_ChIP-ChIP_JURKAT_Human3.40182402
7MYC_18555785_ChIP-Seq_MESCs_Mouse3.09094020
8THAP11_20581084_ChIP-Seq_MESCs_Mouse2.92210534
9ZNF263_19887448_ChIP-Seq_K562_Human2.89958992
10ETS1_20019798_ChIP-Seq_JURKAT_Human2.86701214
11SREBP1_19666523_ChIP-Seq_LIVER_Mouse2.86336080
12CREB1_15753290_ChIP-ChIP_HEK293T_Human2.64000463
13JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.58432984
14E2F7_22180533_ChIP-Seq_HELA_Human2.35121256
15CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat2.17558406
16TFEB_21752829_ChIP-Seq_HELA_Human2.10570278
17XRN2_22483619_ChIP-Seq_HELA_Human2.03670077
18YY1_21170310_ChIP-Seq_MESCs_Mouse1.94862488
19EST1_17652178_ChIP-ChIP_JURKAT_Human1.92171371
20ZFX_18555785_ChIP-Seq_MESCs_Mouse1.90807667
21GABP_19822575_ChIP-Seq_HepG2_Human1.88667086
22MYC_19079543_ChIP-ChIP_MESCs_Mouse1.88491998
23PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.76815293
24MYC_18358816_ChIP-ChIP_MESCs_Mouse1.75532968
25KDM5A_27292631_Chip-Seq_BREAST_Human1.73252826
26MYC_19030024_ChIP-ChIP_MESCs_Mouse1.72152034
27CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.70864412
28TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.67163515
29CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.67136406
30KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.63083894
31DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.63072872
32ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.61524148
33DCP1A_22483619_ChIP-Seq_HELA_Human1.59798221
34ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.57257414
35SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.56800407
36TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.53743997
37SOX2_27498859_Chip-Seq_STOMACH_Mouse1.53315250
38FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.52642710
39THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.51496699
40MYCN_18555785_ChIP-Seq_MESCs_Mouse1.48407746
41RARG_19884340_ChIP-ChIP_MEFs_Mouse1.47464866
42TTF2_22483619_ChIP-Seq_HELA_Human1.45068735
43ELF1_17652178_ChIP-ChIP_JURKAT_Human1.45057223
44POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.45047222
45E2F1_18555785_ChIP-Seq_MESCs_Mouse1.43374469
46TP63_17297297_ChIP-ChIP_HaCaT_Human1.41285192
47CDX2_20551321_ChIP-Seq_CACO-2_Human1.38543922
48CIITA_25753668_ChIP-Seq_RAJI_Human1.38214605
49CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse1.37173662
50KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.35458939
51GATA6_25053715_ChIP-Seq_YYC3_Human1.35241798
52NELFA_20434984_ChIP-Seq_ESCs_Mouse1.34507268
53MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.33837257
54ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.33410987
55MYC_22102868_ChIP-Seq_BL_Human1.33152811
56BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.32439632
57SOX11_23321250_ChIP-ChIP_Z138-A519-JVM2_Human1.30420552
58RACK7_27058665_Chip-Seq_MCF-7_Human1.25634096
59KLF4_18555785_ChIP-Seq_MESCs_Mouse1.24865785
60TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.21676658
61YY1_22570637_ChIP-Seq_MALME-3M_Human1.20645881
62ATF3_27146783_Chip-Seq_COLON_Human1.20539511
63ERG_20887958_ChIP-Seq_HPC-7_Mouse1.19828241
64HIF1A_21447827_ChIP-Seq_MCF-7_Human1.18542390
65ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.17895319
66SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.17350289
67FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.17192012
68VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.15044911
69HOXB4_20404135_ChIP-ChIP_EML_Mouse1.12975699
70LXR_22292898_ChIP-Seq_THP-1_Human1.12113995
71CREM_20920259_ChIP-Seq_GC1-SPG_Mouse1.07527155
72TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.05733415
73TBX5_21415370_ChIP-Seq_HL-1_Mouse1.03952757
74RXR_22158963_ChIP-Seq_LIVER_Mouse1.03703909
75PPARA_22158963_ChIP-Seq_LIVER_Mouse1.03323738
76CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.03195984
77CHD1_26751641_Chip-Seq_LNCaP_Human1.02878710
78ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.02738795
79NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.02733847
80TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.01312829
81CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse1.00830247
82PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.00369670
83TET1_21451524_ChIP-Seq_MESCs_Mouse0.99791373
84TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.99514032
85PADI4_21655091_ChIP-ChIP_MCF-7_Human0.97732371
86NANOG_21062744_ChIP-ChIP_HESCs_Human0.97525638
87CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.96426531
88E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human0.95757792
89KLF5_25053715_ChIP-Seq_YYC3_Human0.94543014
90SETDB1_19884255_ChIP-Seq_MESCs_Mouse0.94384462
91BCL6_27268052_Chip-Seq_Bcells_Human0.94146417
92BCOR_27268052_Chip-Seq_Bcells_Human0.92317984
93CTCF_18555785_ChIP-Seq_MESCs_Mouse0.92109294
94E2F1_21310950_ChIP-Seq_MCF-7_Human0.91656673
95NANOG_18555785_ChIP-Seq_MESCs_Mouse0.90558573
96P300_27058665_Chip-Seq_ZR-75-30cells_Human0.89850859
97KLF4_19030024_ChIP-ChIP_MESCs_Mouse0.88817900
98SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse0.88810560
99ZFP322A_24550733_ChIP-Seq_MESCs_Mouse0.87464653
100KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human0.86390702

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008004_abnormal_stomach_pH5.33977665
2MP0003303_peritoneal_inflammation3.98721703
3MP0000490_abnormal_crypts_of3.97821092
4MP0000462_abnormal_digestive_system3.84702106
5MP0001664_abnormal_digestion3.81877262
6MP0005058_abnormal_lysosome_morphology3.76323013
7MP0005381_digestive/alimentary_phenotyp3.58498224
8MP0000470_abnormal_stomach_morphology3.47986194
9MP0001663_abnormal_digestive_system3.16257327
10MP0003136_yellow_coat_color2.89324123
11MP0005083_abnormal_biliary_tract2.48625105
12MP0005165_increased_susceptibility_to2.38540656
13MP0003938_abnormal_ear_development2.23633236
14MP0009333_abnormal_splenocyte_physiolog2.18311519
15MP0005503_abnormal_tendon_morphology2.09509500
16MP0004957_abnormal_blastocyst_morpholog2.08206841
17MP0003693_abnormal_embryo_hatching2.05054165
18MP0005670_abnormal_white_adipose2.04763126
19MP0010234_abnormal_vibrissa_follicle2.03759743
20MP0005171_absent_coat_pigmentation1.92795590
21MP0001348_abnormal_lacrimal_gland1.86427327
22MP0004233_abnormal_muscle_weight1.83872022
23MP0005408_hypopigmentation1.73284582
24MP0003119_abnormal_digestive_system1.72156500
25MP0010030_abnormal_orbit_morphology1.71287953
26MP0008438_abnormal_cutaneous_collagen1.69807112
27MP0003879_abnormal_hair_cell1.66494790
28MP0009840_abnormal_foam_cell1.62419332
29MP0002089_abnormal_postnatal_growth/wei1.60517833
30MP0004185_abnormal_adipocyte_glucose1.51283706
31MP0001270_distended_abdomen1.49774466
32MP0009379_abnormal_foot_pigmentation1.48763480
33MP0005666_abnormal_adipose_tissue1.44115975
34MP0000566_synostosis1.42127265
35MP0005451_abnormal_body_composition1.41935916
36MP0009250_abnormal_appendicular_skeleto1.38745779
37MP0001661_extended_life_span1.38013001
38MP0000428_abnormal_craniofacial_morphol1.25822263
39MP0003115_abnormal_respiratory_system1.25133467
40MP0000569_abnormal_digit_pigmentation1.24819251
41MP0003172_abnormal_lysosome_physiology1.20629749
42MP0003763_abnormal_thymus_physiology1.18974222
43MP0005501_abnormal_skin_physiology1.13686632
44MP0005085_abnormal_gallbladder_physiolo1.13076333
45MP0005220_abnormal_exocrine_pancreas1.11989816
46MP0005174_abnormal_tail_pigmentation1.09966961
47MP0001849_ear_inflammation1.09576024
48MP0009053_abnormal_anal_canal1.08635268
49MP0008569_lethality_at_weaning1.03516980
50MP0001730_embryonic_growth_arrest1.03144390
51MP0003705_abnormal_hypodermis_morpholog0.99693603
52MP0003111_abnormal_nucleus_morphology0.99305284
53MP0002080_prenatal_lethality0.96607284
54MP0008932_abnormal_embryonic_tissue0.95391076
55MP0000537_abnormal_urethra_morphology0.94779044
56MP0002090_abnormal_vision0.92718714
57MP0005508_abnormal_skeleton_morphology0.91597649
58MP0003959_abnormal_lean_body0.90107129
59MP0002168_other_aberrant_phenotype0.89144020
60MP0000477_abnormal_intestine_morphology0.88649876
61MP0002084_abnormal_developmental_patter0.87358225
62MP0009672_abnormal_birth_weight0.86767398
63MP0003077_abnormal_cell_cycle0.86466592
64MP0002796_impaired_skin_barrier0.84953941
65MP0000313_abnormal_cell_death0.83993874
66MP0010155_abnormal_intestine_physiology0.83736391
67MP0005410_abnormal_fertilization0.80942197
68MP0003828_pulmonary_edema0.80596942
69MP0005395_other_phenotype0.79836174
70MP0001851_eye_inflammation0.79151815
71MP0001666_abnormal_nutrient_absorption0.77145188
72MP0000350_abnormal_cell_proliferation0.76555746
73MP0003984_embryonic_growth_retardation0.75499153
74MP0000747_muscle_weakness0.75292962
75MP0002088_abnormal_embryonic_growth/wei0.74500134
76MP0010307_abnormal_tumor_latency0.73021238
77MP0001697_abnormal_embryo_size0.71904112
78MP0001919_abnormal_reproductive_system0.71203274
79MP0002085_abnormal_embryonic_tissue0.71082697
80MP0002896_abnormal_bone_mineralization0.69824099
81MP0000627_abnormal_mammary_gland0.69402711
82MP0003943_abnormal_hepatobiliary_system0.67650948
83MP0001672_abnormal_embryogenesis/_devel0.67367583
84MP0005380_embryogenesis_phenotype0.67367583
85MP0009384_cardiac_valve_regurgitation0.66973193
86MP0000579_abnormal_nail_morphology0.66810115
87MP0004782_abnormal_surfactant_physiolog0.63396096
88MP0002249_abnormal_larynx_morphology0.62721883
89MP0002233_abnormal_nose_morphology0.62008012
90MP0010630_abnormal_cardiac_muscle0.61859403
91MP0003453_abnormal_keratinocyte_physiol0.58678679
92MP0002086_abnormal_extraembryonic_tissu0.58108020
93MP0000367_abnormal_coat/_hair0.58075431
94MP0004742_abnormal_vestibular_system0.56431733
95MP0003718_maternal_effect0.55944343
96MP0003698_abnormal_male_reproductive0.54857092
97MP0004197_abnormal_fetal_growth/weight/0.54747393
98MP0002060_abnormal_skin_morphology0.54720897
99MP0002210_abnormal_sex_determination0.53967897
100MP0002095_abnormal_skin_pigmentation0.53782735

Predicted human phenotypes

RankGene SetZ-score
1Azoospermia (HP:0000027)7.72338554
2Short nail (HP:0001799)6.06689570
3Abnormal spermatogenesis (HP:0008669)5.80506179
4Beaking of vertebral bodies (HP:0004568)4.94562185
5Abnormality of the lumbar spine (HP:0100712)4.89135664
6Thoracic kyphosis (HP:0002942)4.85538815
7Vertebral compression fractures (HP:0002953)4.68388136
8Broad metatarsal (HP:0001783)4.50810020
9Abnormal tarsal ossification (HP:0008369)4.26847551
10Abnormality of the thoracic spine (HP:0100711)4.22125768
11Mesomelia (HP:0003027)3.90385576
12Vertebral arch anomaly (HP:0008438)3.86123304
13Hand muscle atrophy (HP:0009130)3.82134326
14Abnormality of liposaccharide metabolism (HP:0010968)3.79777093
15Abnormality of glycosphingolipid metabolism (HP:0004343)3.79777093
16Abnormality of glycolipid metabolism (HP:0010969)3.79777093
17Upper limb amyotrophy (HP:0009129)3.48847622
18Distal upper limb amyotrophy (HP:0007149)3.48847622
19Cone-shaped epiphyses of the phalanges of the hand (HP:0010230)3.47080844
20Conjugated hyperbilirubinemia (HP:0002908)3.35684845
21Aplasia/Hypoplasia of the sacrum (HP:0008517)3.21826452
22Back pain (HP:0003418)3.12432072
23Increased cerebral lipofuscin (HP:0011813)3.07545038
24Increased neuronal autofluorescent lipopigment (HP:0002074)3.03257994
25Abnormal foot bone ossification (HP:0010675)3.02017331
26Vacuolated lymphocytes (HP:0001922)2.97151885
27J-shaped sella turcica (HP:0002680)2.94903100
28Redundant skin (HP:0001582)2.94681136
29Exercise-induced myalgia (HP:0003738)2.90913594
30Syringomyelia (HP:0003396)2.88897771
31Spinal cord lesions (HP:0100561)2.88897771
32Radial bowing (HP:0002986)2.86909171
33Long palpebral fissure (HP:0000637)2.86863597
34Deformed sella turcica (HP:0002681)2.82839645
35Large for gestational age (HP:0001520)2.70090044
36Exocrine pancreatic insufficiency (HP:0001738)2.64543313
37Hypercortisolism (HP:0001578)2.63955639
38Dysostosis multiplex (HP:0000943)2.58671274
39Abnormality of the epiphyses of the phalanges of the hand (HP:0005920)2.55889180
40Abnormality of the distal phalanges of the toes (HP:0010182)2.54593752
41Broad hallux (HP:0010055)2.52490683
42Decreased circulating renin level (HP:0003351)2.51425455
43Overlapping toe (HP:0001845)2.48762102
44Ovoid vertebral bodies (HP:0003300)2.42528077
45Abnormality of the gastric mucosa (HP:0004295)2.33749380
46Asymmetry of the thorax (HP:0001555)2.31769731
47Broad toe (HP:0001837)2.26439127
48Long toe (HP:0010511)2.24155816
49Upper limb muscle weakness (HP:0003484)2.17169181
50Patchy hypopigmentation of hair (HP:0011365)2.16773965
51Abnormality of the epiphyses of the hand (HP:0005924)2.14670074
52Sparse eyelashes (HP:0000653)2.14230339
53Ankyloglossia (HP:0010296)2.11896426
54Abnormality involving the epiphyses of the upper limbs (HP:0003839)2.11546852
55Ridged nail (HP:0001807)2.09998665
56Tetraparesis (HP:0002273)2.08110664
57Epiphyseal stippling (HP:0010655)2.07518516
58Progressive visual loss (HP:0000529)2.03414775
59Trismus (HP:0000211)2.02717572
60Abnormal ventriculo-arterial connection (HP:0011563)2.02107275
61Transposition of the great arteries (HP:0001669)2.02107275
62Abnormal connection of the cardiac segments (HP:0011545)2.02107275
63Carpal bone hypoplasia (HP:0001498)2.01840139
64Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)2.01429320
65Hyperparathyroidism (HP:0000843)1.99007986
66Dry hair (HP:0011359)1.95030584
67Coarse hair (HP:0002208)1.91211307
68Abnormality of long-chain fatty-acid metabolism (HP:0010964)1.85850812
69Multiple lipomas (HP:0001012)1.85005479
70Periodontitis (HP:0000704)1.84682304
71Renal salt wasting (HP:0000127)1.83750424
72Abnormality of small intestinal villus morphology (HP:0011472)1.83442805
73Villous atrophy (HP:0011473)1.83442805
74Gonadal dysgenesis (HP:0000133)1.82069917
75Testicular neoplasm (HP:0010788)1.81777106
76Hypokinesia (HP:0002375)1.80038969
77Prolonged neonatal jaundice (HP:0006579)1.79794890
78Abnormality of the musculature of the hand (HP:0001421)1.78809972
79Bowing of the arm (HP:0006488)1.77029658
80Bowed forearm bones (HP:0003956)1.77029658
81Sprengel anomaly (HP:0000912)1.75862523
82Abnormality of the phalanges of the hallux (HP:0010057)1.74945488
83Opisthotonus (HP:0002179)1.73604251
84Tubulointerstitial nephritis (HP:0001970)1.73149546
85Albinism (HP:0001022)1.71309106
86Paraparesis (HP:0002385)1.71224881
87Erythema (HP:0010783)1.69347690
88Protrusio acetabuli (HP:0003179)1.67220499
89Abnormality of the sella turcica (HP:0002679)1.67054295
90Progressive neurologic deterioration (HP:0002344)1.66674071
91Hyperactive renin-angiotensin system (HP:0000841)1.66658013
92White forelock (HP:0002211)1.66617251
93Abnormality of polysaccharide metabolism (HP:0011012)1.66505896
94Abnormality of glycosaminoglycan metabolism (HP:0004371)1.66505896
95Abnormality of mucopolysaccharide metabolism (HP:0011020)1.66505896
96Spastic paraparesis (HP:0002313)1.66291768
97Subacute progressive viral hepatitis (HP:0006572)1.66107613
98Curly hair (HP:0002212)1.64898171
99Abnormality of fatty-acid metabolism (HP:0004359)1.63719573
100Melanoma (HP:0002861)1.62629856

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NEK18.27819800
2TAF14.41943346
3SMG14.09354887
4PRPF4B4.02505665
5PBK3.84209179
6VRK23.80650419
7ERN13.25275970
8EIF2AK32.58522625
9MST1R2.51725551
10EPHA22.27650036
11TRIB32.25266518
12TAOK21.86680565
13IRAK31.86047420
14LRRK21.70550843
15TESK21.68555867
16EEF2K1.66016997
17BRAF1.51338080
18NME21.35943623
19RIPK11.21659369
20ARAF1.15406456
21EPHB21.14774970
22CDK191.12656406
23PIK3CG1.12207235
24MST41.11203689
25CDK91.10997063
26CSNK1G31.07142388
27CDK31.01949320
28PASK1.01822415
29PRKD31.00529771
30MELK0.98817129
31MET0.97614741
32KSR20.97027782
33CSNK1A1L0.96869221
34SCYL20.96343508
35MAP3K100.96067644
36NUAK10.94930452
37PAK40.94034950
38MAP3K90.91734038
39LMTK20.90522492
40TNIK0.90341192
41TTK0.83855624
42SIK10.83145003
43KSR10.83082887
44ITK0.82811135
45EIF2AK10.78583153
46ICK0.77303902
47AKT20.76781534
48TRPM70.75449169
49STK160.74272738
50STK240.70177534
51DAPK10.69182257
52MAPKAPK50.65380062
53CSNK1G10.65358314
54CSNK1G20.64167780
55NME10.60004500
56MAP2K20.59910351
57CDK11A0.57501607
58MARK30.56637435
59MARK20.56321995
60MAP3K120.55722468
61CDK70.55699115
62CDK80.54832392
63ZAP700.54697240
64PKN20.51712698
65CDK150.49895679
66PRKCI0.49690407
67CDK140.47072566
68HIPK20.47000029
69CDK180.46227819
70DAPK30.44535117
71VRK10.42600035
72MAP3K80.41869190
73BUB10.38293932
74TESK10.36519170
75MAPK70.36440315
76INSRR0.33015613
77PDPK10.32473205
78ALK0.31805024
79ILK0.31138257
80DYRK20.29887762
81MTOR0.28316925
82STK100.27098974
83PLK30.27010407
84AURKA0.26113235
85PAK10.24430999
86NTRK10.20802588
87EIF2AK20.19790760
88CDK120.19628581
89CHEK20.17281209
90CHEK10.15559252
91TGFBR10.14982889
92ROCK20.13992152
93BRSK10.13353190
94PDK10.12418144
95RPS6KB10.11042548
96MAPK90.10910376
97DDR20.10253461
98CSNK1E0.09687601
99STK38L0.09548281
100IRAK20.09412581

Predicted pathways (KEGG)

RankGene SetZ-score
1N-Glycan biosynthesis_Homo sapiens_hsa005104.00287799
2Protein processing in endoplasmic reticulum_Homo sapiens_hsa041413.24095916
3Butirosin and neomycin biosynthesis_Homo sapiens_hsa005243.09935014
4Vibrio cholerae infection_Homo sapiens_hsa051102.87609538
5Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009702.74109797
6Proteasome_Homo sapiens_hsa030502.72720763
7Glycosaminoglycan degradation_Homo sapiens_hsa005312.51279538
8Other types of O-glycan biosynthesis_Homo sapiens_hsa005142.47393235
9Other glycan degradation_Homo sapiens_hsa005112.37302115
10Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005202.35898892
11Ribosome_Homo sapiens_hsa030102.26083495
12Cyanoamino acid metabolism_Homo sapiens_hsa004602.19329272
13Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006032.19010011
14Citrate cycle (TCA cycle)_Homo sapiens_hsa000202.18915389
15Lysosome_Homo sapiens_hsa041422.11626888
16One carbon pool by folate_Homo sapiens_hsa006702.04595356
17Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.97323255
18Bladder cancer_Homo sapiens_hsa052191.92067553
19Non-small cell lung cancer_Homo sapiens_hsa052231.84523914
20Hepatitis C_Homo sapiens_hsa051601.80315532
21Thyroid cancer_Homo sapiens_hsa052161.79603575
22Endometrial cancer_Homo sapiens_hsa052131.68301971
23Chronic myeloid leukemia_Homo sapiens_hsa052201.57781734
24DNA replication_Homo sapiens_hsa030301.56832954
25Sulfur relay system_Homo sapiens_hsa041221.55925492
262-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.43746644
27Fatty acid elongation_Homo sapiens_hsa000621.38840210
28Collecting duct acid secretion_Homo sapiens_hsa049661.27401852
29Sulfur metabolism_Homo sapiens_hsa009201.25791371
30Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.21816245
31Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.15592251
32Acute myeloid leukemia_Homo sapiens_hsa052211.15339755
33Pancreatic cancer_Homo sapiens_hsa052121.14937390
34Intestinal immune network for IgA production_Homo sapiens_hsa046721.12424106
35Central carbon metabolism in cancer_Homo sapiens_hsa052301.12014799
36Glioma_Homo sapiens_hsa052141.07955575
37Prostate cancer_Homo sapiens_hsa052151.07340268
38Carbon metabolism_Homo sapiens_hsa012001.05333867
39Glutathione metabolism_Homo sapiens_hsa004801.02333008
40Tight junction_Homo sapiens_hsa045301.01288439
41Melanoma_Homo sapiens_hsa052181.00560150
42Synaptic vesicle cycle_Homo sapiens_hsa047210.92273270
43Base excision repair_Homo sapiens_hsa034100.90509857
44Galactose metabolism_Homo sapiens_hsa000520.85305000
45Insulin signaling pathway_Homo sapiens_hsa049100.83880646
46Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.82181613
47mRNA surveillance pathway_Homo sapiens_hsa030150.80201580
48Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.79063383
49Neurotrophin signaling pathway_Homo sapiens_hsa047220.75664928
50RNA transport_Homo sapiens_hsa030130.70441040
51Cell cycle_Homo sapiens_hsa041100.69475573
52Pyrimidine metabolism_Homo sapiens_hsa002400.69242231
53Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.66401046
54Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.66291530
55RNA polymerase_Homo sapiens_hsa030200.66281989
56Fructose and mannose metabolism_Homo sapiens_hsa000510.64409449
57Steroid biosynthesis_Homo sapiens_hsa001000.64324480
58Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.64227178
59SNARE interactions in vesicular transport_Homo sapiens_hsa041300.63133288
60Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.62094962
61Lysine degradation_Homo sapiens_hsa003100.60447986
62Biosynthesis of amino acids_Homo sapiens_hsa012300.60034993
63Mismatch repair_Homo sapiens_hsa034300.57154298
64Renal cell carcinoma_Homo sapiens_hsa052110.56071601
65Longevity regulating pathway - mammal_Homo sapiens_hsa042110.54464469
66Apoptosis_Homo sapiens_hsa042100.53564250
67Propanoate metabolism_Homo sapiens_hsa006400.52821453
68Protein export_Homo sapiens_hsa030600.52382379
69Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.51333919
70Peroxisome_Homo sapiens_hsa041460.50938301
71Inositol phosphate metabolism_Homo sapiens_hsa005620.50843770
72Hepatitis B_Homo sapiens_hsa051610.50471503
73Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.49097591
74Fatty acid metabolism_Homo sapiens_hsa012120.47298042
75Endocytosis_Homo sapiens_hsa041440.45960623
76Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.44079163
77Pyruvate metabolism_Homo sapiens_hsa006200.44065466
78Arginine and proline metabolism_Homo sapiens_hsa003300.43049301
79Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.41060571
80Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.39355576
81Metabolic pathways_Homo sapiens_hsa011000.38124949
82Sphingolipid metabolism_Homo sapiens_hsa006000.37646966
83ErbB signaling pathway_Homo sapiens_hsa040120.37468780
84Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.33765132
85Selenocompound metabolism_Homo sapiens_hsa004500.33390025
86Spliceosome_Homo sapiens_hsa030400.33361481
87Notch signaling pathway_Homo sapiens_hsa043300.31214373
88Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.30824947
89Phosphatidylinositol signaling system_Homo sapiens_hsa040700.30643226
90Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.30354060
91cGMP-PKG signaling pathway_Homo sapiens_hsa040220.29831453
92Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.28721827
93Fatty acid degradation_Homo sapiens_hsa000710.28494870
94Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.28489653
95Thyroid hormone signaling pathway_Homo sapiens_hsa049190.27998680
96Measles_Homo sapiens_hsa051620.27671753
97Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.27533557
98Maturity onset diabetes of the young_Homo sapiens_hsa049500.27259732
99Influenza A_Homo sapiens_hsa051640.27190638
100Small cell lung cancer_Homo sapiens_hsa052220.26970792

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