GAB1

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 IRS1-like multisubstrate docking protein family. It is an important mediator of branching tubulogenesis and plays a central role in cellular growth response, transformation and apoptosis. Two transcript variants encoding different isoforms have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1central nervous system myelination (GO:0022010)8.67906853
2axon ensheathment in central nervous system (GO:0032291)8.67906853
3axon ensheathment (GO:0008366)5.77203609
4ensheathment of neurons (GO:0007272)5.77203609
5myelination (GO:0042552)5.68248413
6fatty acid elongation (GO:0030497)4.94211024
7regulation of posttranscriptional gene silencing (GO:0060147)4.88736603
8regulation of gene silencing by miRNA (GO:0060964)4.88736603
9regulation of gene silencing by RNA (GO:0060966)4.88736603
10lateral sprouting from an epithelium (GO:0060601)4.28268299
11presynaptic membrane assembly (GO:0097105)4.07372918
12polarized epithelial cell differentiation (GO:0030859)4.02844209
13anterior/posterior axis specification, embryo (GO:0008595)3.99216054
14apical protein localization (GO:0045176)3.91341142
15myelin maintenance (GO:0043217)3.89498995
16myelination in peripheral nervous system (GO:0022011)3.80982926
17peripheral nervous system axon ensheathment (GO:0032292)3.80982926
18presynaptic membrane organization (GO:0097090)3.76988369
19astrocyte development (GO:0014002)3.75969735
20interkinetic nuclear migration (GO:0022027)3.67167852
21regulation of DNA methylation (GO:0044030)3.65615679
22membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.63797268
23negative regulation of protein localization to cell surface (GO:2000009)3.62703029
24asymmetric protein localization (GO:0008105)3.55654249
25establishment of apical/basal cell polarity (GO:0035089)3.50335224
26long-chain fatty acid biosynthetic process (GO:0042759)3.50104228
27paraxial mesoderm development (GO:0048339)3.48958416
28cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.45957461
29creatine metabolic process (GO:0006600)3.43993842
30negative regulation of cytosolic calcium ion concentration (GO:0051481)3.41328020
31glomerular filtration (GO:0003094)3.39332747
32relaxation of cardiac muscle (GO:0055119)3.37989266
33regulation of collateral sprouting (GO:0048670)3.37724625
34establishment of mitochondrion localization (GO:0051654)3.35663336
35regulation of female gonad development (GO:2000194)3.34936778
36positive regulation of SMAD protein import into nucleus (GO:0060391)3.27375695
37renal filtration (GO:0097205)3.25559664
38negative regulation of peptidyl-threonine phosphorylation (GO:0010801)3.25230713
39regulation of cardioblast differentiation (GO:0051890)3.19588419
40regulation of branching involved in prostate gland morphogenesis (GO:0060687)3.17106247
41response to hepatocyte growth factor (GO:0035728)3.16807927
42cellular response to hepatocyte growth factor stimulus (GO:0035729)3.16807927
43adhesion of symbiont to host cell (GO:0044650)3.13579005
44virion attachment to host cell (GO:0019062)3.13579005
45regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)3.11828034
46Leydig cell differentiation (GO:0033327)3.11754845
47regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)3.10306350
48regulation of actin filament-based movement (GO:1903115)3.09686440
49cardiac myofibril assembly (GO:0055003)3.09386793
50cranial suture morphogenesis (GO:0060363)3.09127977
51positive regulation of oligodendrocyte differentiation (GO:0048714)3.08503355
52regulation of cardiac muscle cell contraction (GO:0086004)3.07537560
53cell fate commitment involved in formation of primary germ layer (GO:0060795)3.05865173
54regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO3.05354986
55limb bud formation (GO:0060174)3.02512023
56oligodendrocyte differentiation (GO:0048709)3.02419852
57lung-associated mesenchyme development (GO:0060484)3.01619022
58photoreceptor cell differentiation (GO:0046530)3.00230737
59eye photoreceptor cell differentiation (GO:0001754)3.00230737
60glycerophospholipid catabolic process (GO:0046475)2.99892561
61notochord development (GO:0030903)2.98957811
62cell communication by electrical coupling (GO:0010644)2.98728780
63mesenchymal cell proliferation (GO:0010463)2.98426834
64regulation of relaxation of muscle (GO:1901077)2.98247269
65embryonic retina morphogenesis in camera-type eye (GO:0060059)2.97543346
66cardiac muscle hypertrophy (GO:0003300)2.96651760
67regulation of helicase activity (GO:0051095)2.91366217
68regulation of SMAD protein import into nucleus (GO:0060390)2.90180241
69establishment or maintenance of bipolar cell polarity (GO:0061245)2.89583777
70establishment or maintenance of apical/basal cell polarity (GO:0035088)2.89583777
71myofibril assembly (GO:0030239)2.89209358
72cerebral cortex radially oriented cell migration (GO:0021799)2.87105585
73DNA replication-dependent nucleosome assembly (GO:0006335)2.86464401
74DNA replication-dependent nucleosome organization (GO:0034723)2.86464401
75cholesterol biosynthetic process (GO:0006695)2.85844465
76establishment of monopolar cell polarity (GO:0061162)2.84227102
77establishment or maintenance of monopolar cell polarity (GO:0061339)2.84227102
78positive regulation of actin filament depolymerization (GO:0030836)2.83147454
79striated muscle hypertrophy (GO:0014897)2.83037394
80regulation of Wnt signaling pathway involved in heart development (GO:0003307)2.80248370
81peptidyl-tyrosine autophosphorylation (GO:0038083)2.80055363
82regulation of meiosis I (GO:0060631)2.79998541
83negative regulation of neurotransmitter transport (GO:0051589)2.79823735
84postsynaptic membrane organization (GO:0001941)2.79573893
85positive regulation of chromosome segregation (GO:0051984)2.79381864
86amino acid import (GO:0043090)2.78282905
87nucleus localization (GO:0051647)2.77335208
88negative regulation of neurotransmitter secretion (GO:0046929)2.77271554
89cytoskeletal anchoring at plasma membrane (GO:0007016)2.76197148
90relaxation of smooth muscle (GO:0044557)2.74811271
91cell communication involved in cardiac conduction (GO:0086065)2.74575219
92microtubule polymerization or depolymerization (GO:0031109)2.73264274
93retinal cone cell development (GO:0046549)2.72577309
94positive regulation of catenin import into nucleus (GO:0035413)2.69030918
95nuclear pore organization (GO:0006999)2.67786782
96oocyte development (GO:0048599)2.67497717
97regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)2.67274200
98apoptotic process involved in morphogenesis (GO:0060561)2.66373363
99regulation of acrosome reaction (GO:0060046)2.65563336
100branching involved in salivary gland morphogenesis (GO:0060445)2.64128830
101positive regulation of cardiac muscle cell differentiation (GO:2000727)2.62975544
102regulation of myelination (GO:0031641)2.61755313
103regulation of attachment of spindle microtubules to kinetochore (GO:0051988)2.60438768
104cardiac muscle hypertrophy in response to stress (GO:0014898)2.60107628
105muscle hypertrophy in response to stress (GO:0003299)2.60107628
106cardiac muscle adaptation (GO:0014887)2.60107628
107digestive tract morphogenesis (GO:0048546)2.57867970
108meiotic cell cycle (GO:0051321)2.57799705
109cellular sodium ion homeostasis (GO:0006883)2.57241389
110craniofacial suture morphogenesis (GO:0097094)2.56349899
111positive regulation of pseudopodium assembly (GO:0031274)2.53882124
112positive regulation of calcium ion transmembrane transporter activity (GO:1901021)2.53562955
113sterol biosynthetic process (GO:0016126)2.53470512
114spindle assembly involved in mitosis (GO:0090307)2.53270677
115positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)2.52648970
116negative regulation of potassium ion transmembrane transport (GO:1901380)2.51322429
117positive regulation of calcium ion-dependent exocytosis (GO:0045956)2.50931631
118enteric nervous system development (GO:0048484)2.50841579
119regulation of hippo signaling (GO:0035330)2.49539047
120V(D)J recombination (GO:0033151)2.48517307
121negative regulation of potassium ion transmembrane transporter activity (GO:1901017)2.48377249
122cardiac chamber formation (GO:0003207)2.46995228
123nuclear pore complex assembly (GO:0051292)2.46589941
124otic vesicle formation (GO:0030916)2.46450583
125nerve growth factor signaling pathway (GO:0038180)2.46244924
126substantia nigra development (GO:0021762)2.44249937
127regulation of RNA export from nucleus (GO:0046831)2.44096484
128branching involved in labyrinthine layer morphogenesis (GO:0060670)2.43555395
129negative regulation of cell fate commitment (GO:0010454)2.43387582
130relaxation of muscle (GO:0090075)2.43242863
131heart valve formation (GO:0003188)2.42947203
132mechanosensory behavior (GO:0007638)2.42585414
133negative regulation of androgen receptor signaling pathway (GO:0060766)2.42538988
134auditory behavior (GO:0031223)2.42510023
135positive regulation of phosphoprotein phosphatase activity (GO:0032516)2.41955058
136cell junction maintenance (GO:0034331)2.41584959
137cellular response to ethanol (GO:0071361)2.41385759
138phosphorelay signal transduction system (GO:0000160)2.40215836
139determination of adult lifespan (GO:0008340)2.39605592
140dendrite morphogenesis (GO:0048813)2.39158083
141regulation of catenin import into nucleus (GO:0035412)2.38084917
142sodium ion export (GO:0071436)2.37323063
143cell-cell junction maintenance (GO:0045217)2.37171280
144neurotransmitter-gated ion channel clustering (GO:0072578)2.37144824
145ventricular cardiac muscle cell action potential (GO:0086005)2.36358077
146ribosome assembly (GO:0042255)2.36112392
147ear development (GO:0043583)2.35004923
148hippo signaling (GO:0035329)2.34662517
149endocardial cushion development (GO:0003197)2.34403564
150regulation of histone H3-K9 methylation (GO:0051570)2.33893145
151regulation of gene silencing (GO:0060968)2.33290954
152L-amino acid import (GO:0043092)2.33217622
153cardiac ventricle formation (GO:0003211)2.33038027
154muscle hypertrophy (GO:0014896)2.32840948
155cellular protein complex localization (GO:0034629)2.32136671
156mitotic cytokinesis (GO:0000281)2.31309892
157regulation of cell communication by electrical coupling (GO:0010649)2.31147266
158response to redox state (GO:0051775)2.30997963
159positive regulation of cardiac muscle tissue growth (GO:0055023)2.30891383
160positive regulation of neurological system process (GO:0031646)2.30316191
161adhesion of symbiont to host (GO:0044406)2.29506105
162positive regulation of heart growth (GO:0060421)2.28413427
163growth hormone receptor signaling pathway (GO:0060396)2.25835832
164regulation of sarcomere organization (GO:0060297)2.25196227
165coronary vasculature morphogenesis (GO:0060977)2.25153996
166regulation of steroid hormone secretion (GO:2000831)2.24518867
167positive regulation of microtubule polymerization (GO:0031116)2.20585758
168DNA methylation involved in gamete generation (GO:0043046)2.20558444
169cardiac muscle contraction (GO:0060048)2.20239521
170piRNA metabolic process (GO:0034587)2.20100513
171glycine transport (GO:0015816)2.19127581
172regulation of DNA endoreduplication (GO:0032875)2.18722488
173ionotropic glutamate receptor signaling pathway (GO:0035235)2.18717708
174cardiac muscle cell action potential (GO:0086001)2.18152851
175positive regulation of dendrite morphogenesis (GO:0050775)2.15906902
176regulation of membrane repolarization (GO:0060306)2.15895981
177positive regulation of potassium ion transmembrane transporter activity (GO:1901018)2.14948433
178positive regulation of cardiac muscle hypertrophy (GO:0010613)2.14225839
179positive regulation of muscle hypertrophy (GO:0014742)2.14225839
180retina layer formation (GO:0010842)2.13082106
181potassium ion import (GO:0010107)2.12572503
182cardiac cell development (GO:0055006)2.12198409
183centrosome localization (GO:0051642)2.11774833
184phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)2.10251391
185cardiac muscle cell development (GO:0055013)2.08447920
186regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)2.08278620

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human6.59050012
2KLF2_18264089_ChIP-ChIP_MESCs_Mouse5.08055589
3KLF5_18264089_ChIP-ChIP_MESCs_Mouse5.08055589
4KLF4_18264089_ChIP-ChIP_MESCs_Mouse5.08055589
5NANOG_18700969_ChIP-ChIP_MESCs_Mouse3.65524919
6SMAD1_18555785_ChIP-Seq_MESCs_Mouse3.60113783
7E2F7_22180533_ChIP-Seq_HELA_Human3.49499200
8SMAD3_22036565_ChIP-Seq_ESCs_Mouse3.44193818
9POU5F1_18700969_ChIP-ChIP_MESCs_Mouse3.29532752
10GBX2_23144817_ChIP-Seq_PC3_Human3.09515570
11SALL1_21062744_ChIP-ChIP_HESCs_Human3.07493793
12TCF3_18692474_ChIP-Seq_MEFs_Mouse3.05604743
13NACC1_18358816_ChIP-ChIP_MESCs_Mouse2.98876578
14SALL4_18804426_ChIP-ChIP_MESCs_Mouse2.76717338
15SOX2_18358816_ChIP-ChIP_MESCs_Mouse2.76279752
16TCF3_18692474_ChIP-Seq_MESCs_Mouse2.72688722
17E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.68463221
18GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.62061638
19CEBPD_23245923_ChIP-Seq_MEFs_Mouse2.58058849
20SOX2_18555785_ChIP-Seq_MESCs_Mouse2.44838984
21ZIC3_20872845_ChIP-ChIP_MESCs_Mouse2.30940157
22NANOG_18347094_ChIP-ChIP_MESCs_Mouse2.14339255
23* SMARCD1_25818293_ChIP-Seq_ESCs_Mouse2.12903499
24* AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human2.08774247
25ZFP57_27257070_Chip-Seq_ESCs_Mouse2.07174333
26NANOG_18692474_ChIP-Seq_MEFs_Mouse2.04391013
27TP63_17297297_ChIP-ChIP_HaCaT_Human1.99973922
28PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.99616413
29POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.98762221
30CDX2_19796622_ChIP-Seq_MESCs_Mouse1.98727137
31STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse1.93801424
32CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.91514040
33MYC_19079543_ChIP-ChIP_MESCs_Mouse1.91474929
34SOX2_18692474_ChIP-Seq_MEFs_Mouse1.91013035
35NANOG_18692474_ChIP-Seq_MESCs_Mouse1.90322565
36PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.89779781
37* SMAD4_21799915_ChIP-Seq_A2780_Human1.88375799
38POU3F2_20337985_ChIP-ChIP_501MEL_Human1.88227944
39TAF15_26573619_Chip-Seq_HEK293_Human1.86314678
40ZNF217_24962896_ChIP-Seq_MCF-7_Human1.85920698
41NANOG_18555785_ChIP-Seq_MESCs_Mouse1.85755302
42FOXM1_23109430_ChIP-Seq_U2OS_Human1.85703761
43POU5F1_16518401_ChIP-PET_MESCs_Mouse1.85396297
44TCF3_18347094_ChIP-ChIP_MESCs_Mouse1.83589954
45TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.80872094
46SOX2_18692474_ChIP-Seq_MESCs_Mouse1.79801983
47MYC_18555785_ChIP-Seq_MESCs_Mouse1.76659790
48ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.75859092
49TP53_16413492_ChIP-PET_HCT116_Human1.75051343
50GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.73293266
51PIAS1_25552417_ChIP-Seq_VCAP_Human1.70948461
52* KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.70151413
53KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.69105531
54POU5F1_18347094_ChIP-ChIP_MESCs_Mouse1.67425365
55SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.66490305
56NANOG_18358816_ChIP-ChIP_MESCs_Mouse1.65986355
57MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.65177697
58P300_19829295_ChIP-Seq_ESCs_Human1.64933382
59OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.64215967
60ZNF263_19887448_ChIP-Seq_K562_Human1.64066498
61* MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.63982745
62POU5F1_16153702_ChIP-ChIP_HESCs_Human1.63197670
63TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.62341412
64SOX2_16153702_ChIP-ChIP_HESCs_Human1.58610352
65STAT3_23295773_ChIP-Seq_U87_Human1.56686891
66EOMES_20176728_ChIP-ChIP_TSCs_Mouse1.56609857
67SMAD3_21741376_ChIP-Seq_EPCs_Human1.53528720
68POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.52277479
69TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.52277479
70TOP2B_26459242_ChIP-Seq_MCF-7_Human1.52264286
71AR_21909140_ChIP-Seq_LNCAP_Human1.52086201
72TCF4_23295773_ChIP-Seq_U87_Human1.52017078
73ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.50764195
74STAT6_21828071_ChIP-Seq_BEAS2B_Human1.49878826
75CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.47918512
76KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.47683971
77SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.46986688
78STAT3_1855785_ChIP-Seq_MESCs_Mouse1.46229245
79EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.45581845
80AHR_22903824_ChIP-Seq_MCF-7_Human1.45309503
81GATA1_26923725_Chip-Seq_HPCs_Mouse1.45241916
82AR_21572438_ChIP-Seq_LNCaP_Human1.44852637
83CTBP2_25329375_ChIP-Seq_LNCAP_Human1.44601468
84SALL4_18804426_ChIP-ChIP_XEN_Mouse1.43717882
85ARNT_22903824_ChIP-Seq_MCF-7_Human1.41520895
86SOX2_19030024_ChIP-ChIP_MESCs_Mouse1.40690480
87* PRDM14_21183938_ChIP-Seq_MESCs_Mouse1.39223449
88* FOXM1_26456572_ChIP-Seq_MCF-7_Human1.38732689
89AR_25329375_ChIP-Seq_VCAP_Human1.37109575
90UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.36478378
91TRIM28_21343339_ChIP-Seq_HEK293_Human1.35939936
92TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.35825453
93SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.35433601
94* LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.35396300
95SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.33808526
96NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.33476855
97RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.32518414
98MYC_19030024_ChIP-ChIP_MESCs_Mouse1.31781727
99TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.31504447
100IGF1R_20145208_ChIP-Seq_DFB_Human1.29986299
101OCT4_18692474_ChIP-Seq_MEFs_Mouse1.29719790
102* SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.29650521
103FUS_26573619_Chip-Seq_HEK293_Human1.29617710
104POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.28891728
105HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.28568595
106EWS_26573619_Chip-Seq_HEK293_Human1.28172034
107EZH2_27304074_Chip-Seq_ESCs_Mouse1.27220741
108* YAP1_20516196_ChIP-Seq_MESCs_Mouse1.26671751
109ER_23166858_ChIP-Seq_MCF-7_Human1.25392803
110* SOX2_21211035_ChIP-Seq_LN229_Gbm1.24745363
111GATA1_22025678_ChIP-Seq_K562_Human1.23650866
112WT1_19549856_ChIP-ChIP_CCG9911_Human1.23085722
113* ZFP281_18757296_ChIP-ChIP_E14_Mouse1.22538437
114NR3C1_21868756_ChIP-Seq_MCF10A_Human1.22272310
115* WT1_25993318_ChIP-Seq_PODOCYTE_Human1.21887648
116CTNNB1_20460455_ChIP-Seq_HCT116_Human1.21623993
117RBPJ_22232070_ChIP-Seq_NCS_Mouse1.20698344
118HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.20467531
119NANOG_18555785_Chip-Seq_ESCs_Mouse1.20407201
120ESR2_21235772_ChIP-Seq_MCF-7_Human1.19462716
121NANOG_21062744_ChIP-ChIP_HESCs_Human1.19278185
122DROSHA_22980978_ChIP-Seq_HELA_Human1.19245254
123PRDM14_20953172_ChIP-Seq_ESCs_Human1.18802936
124E2F4_17652178_ChIP-ChIP_JURKAT_Human1.18549180
125CTBP1_25329375_ChIP-Seq_LNCAP_Human1.17563009
126TBX3_20139965_ChIP-Seq_MESCs_Mouse1.17029789
127* SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.16971760
128SMAD3_21741376_ChIP-Seq_HESCs_Human1.16801443
129NANOG_16153702_ChIP-ChIP_HESCs_Human1.16065901
130* SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.15768694
131SMAD_19615063_ChIP-ChIP_OVARY_Human1.15664171
132JARID2_20064375_ChIP-Seq_MESCs_Mouse1.15279805
133ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.15275634
134TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.15199750
135* RUNX2_22187159_ChIP-Seq_PCA_Human1.14785140
136PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.14663640
137POU5F1_18692474_ChIP-Seq_MESCs_Mouse1.14647320
138BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.14176333
139TBX3_20139965_ChIP-Seq_ESCs_Mouse1.14087832
140CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.13598165
141VDR_22108803_ChIP-Seq_LS180_Human1.13053812
142* SOX17_20123909_ChIP-Seq_XEN_Mouse1.11802333
143* NELFA_20434984_ChIP-Seq_ESCs_Mouse1.11653633
144NRF2_20460467_ChIP-Seq_MEFs_Mouse1.10547108
145NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.10547108
146TAL1_26923725_Chip-Seq_HPCs_Mouse1.09802148
147CEBPB_26923725_Chip-Seq_MESODERM_Mouse1.08770054
148RNF2_27304074_Chip-Seq_ESCs_Mouse1.08553416
149BCAT_22108803_ChIP-Seq_LS180_Human1.07593280
150TRIM28_17542650_ChIP-ChIP_NTERA2_Human1.07253003
151NR3C1_23031785_ChIP-Seq_PC12_Mouse1.06337266
152TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.06031683
153KDM2B_26808549_Chip-Seq_REH_Human1.05920801
154* SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.04766512
155MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.04678190
156REST_21632747_ChIP-Seq_MESCs_Mouse1.03933997
157TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.03753846
158CBP_20019798_ChIP-Seq_JUKART_Human1.03523426
159IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.03523426
160CBX2_27304074_Chip-Seq_ESCs_Mouse1.03003153
161SMAD4_21741376_ChIP-Seq_HESCs_Human1.02999120
162FOXO3_23340844_ChIP-Seq_DLD1_Human1.02853369
163ESR1_20079471_ChIP-ChIP_T-47D_Human1.02585402
164CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.02475967
165ZFP281_27345836_Chip-Seq_ESCs_Mouse1.02376313
166BP1_19119308_ChIP-ChIP_Hs578T_Human1.02341135
167GF1_26923725_Chip-Seq_HPCs_Mouse1.02167822
168KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.01406952
169ESR1_21235772_ChIP-Seq_MCF-7_Human1.01004509
170TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.00270216
171PPARD_23208498_ChIP-Seq_MDA-MB-231_Human0.97981282
172ISL1_27105846_Chip-Seq_CPCs_Mouse0.96283709
173* WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.96239035
174EP300_21415370_ChIP-Seq_HL-1_Mouse0.95287334
175KAP1_27257070_Chip-Seq_ESCs_Mouse0.94779683
176HIF1A_21447827_ChIP-Seq_MCF-7_Human0.94322349
177FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human0.93566665
178MYCN_18555785_ChIP-Seq_MESCs_Mouse0.93114341
179KLF4_18555785_ChIP-Seq_MESCs_Mouse0.92296783
180E2F1_18555785_ChIP-Seq_MESCs_Mouse0.89275396
181ASH2L_23239880_ChIP-Seq_MESCs_Mouse0.87668787
182SOX9_26525672_Chip-Seq_Limbbuds_Mouse0.87637887
183EOMES_21245162_ChIP-Seq_HESCs_Human0.79688325
184* NANOG_16518401_ChIP-PET_MESCs_Mouse0.77617076
185* SOX9_24532713_ChIP-Seq_HFSC_Mouse0.74242048
186CREB1_15753290_ChIP-ChIP_HEK293T_Human0.74035409
187CCND1_20090754_ChIP-ChIP_RETINA_Mouse0.72886319

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003950_abnormal_plasma_membrane3.71596247
2MP0000920_abnormal_myelination3.05400270
3MP0003136_yellow_coat_color2.96976858
4MP0004859_abnormal_synaptic_plasticity2.57997364
5MP0000569_abnormal_digit_pigmentation2.52858977
6MP0003890_abnormal_embryonic-extraembry2.48455171
7MP0003806_abnormal_nucleotide_metabolis2.45118342
8MP0005623_abnormal_meninges_morphology2.39858634
9MP0003718_maternal_effect2.39574709
10MP0008877_abnormal_DNA_methylation2.36998278
11MP0001486_abnormal_startle_reflex2.36396254
12MP0001879_abnormal_lymphatic_vessel2.33356682
13MP0000537_abnormal_urethra_morphology2.32286899
14MP0004133_heterotaxia2.24469621
15MP0004272_abnormal_basement_membrane2.22966546
16MP0004885_abnormal_endolymph2.22052659
17MP0004215_abnormal_myocardial_fiber2.21598306
18MP0008057_abnormal_DNA_replication2.03731276
19MP0010368_abnormal_lymphatic_system2.03552254
20MP0010678_abnormal_skin_adnexa2.01407764
21MP0003937_abnormal_limbs/digits/tail_de1.98305005
22MP0001984_abnormal_olfaction1.92041328
23MP0010030_abnormal_orbit_morphology1.90233605
24MP0002653_abnormal_ependyma_morphology1.90018285
25MP0000566_synostosis1.88230798
26MP0001485_abnormal_pinna_reflex1.86635312
27MP0000462_abnormal_digestive_system1.83955825
28MP0004147_increased_porphyrin_level1.81579352
29MP0000383_abnormal_hair_follicle1.79058469
30MP0006292_abnormal_olfactory_placode1.71244420
31MP0002138_abnormal_hepatobiliary_system1.69530983
32MP0003690_abnormal_glial_cell1.66575792
33MP0008789_abnormal_olfactory_epithelium1.66084637
34MP0001293_anophthalmia1.65758672
35MP0002234_abnormal_pharynx_morphology1.63533784
36MP0002876_abnormal_thyroid_physiology1.62152692
37MP0001730_embryonic_growth_arrest1.59507042
38MP0005646_abnormal_pituitary_gland1.57673612
39MP0002638_abnormal_pupillary_reflex1.57361931
40MP0005248_abnormal_Harderian_gland1.57011136
41MP0003880_abnormal_central_pattern1.56501659
42MP0005499_abnormal_olfactory_system1.55821305
43MP0005394_taste/olfaction_phenotype1.55821305
44MP0003635_abnormal_synaptic_transmissio1.51423637
45MP0002084_abnormal_developmental_patter1.51324294
46MP0002272_abnormal_nervous_system1.48218723
47MP0002085_abnormal_embryonic_tissue1.47930256
48MP0004957_abnormal_blastocyst_morpholog1.47435590
49MP0001177_atelectasis1.46335940
50MP0003634_abnormal_glial_cell1.46214150
51MP0008932_abnormal_embryonic_tissue1.45724173
52MP0002095_abnormal_skin_pigmentation1.45153809
53MP0009780_abnormal_chondrocyte_physiolo1.44734094
54MP0000467_abnormal_esophagus_morphology1.42033004
55MP0005171_absent_coat_pigmentation1.41240394
56* MP0004036_abnormal_muscle_relaxation1.41076251
57MP0003566_abnormal_cell_adhesion1.41022534
58MP0000427_abnormal_hair_cycle1.39838690
59MP0000747_muscle_weakness1.37296244
60MP0004185_abnormal_adipocyte_glucose1.37092343
61MP0008438_abnormal_cutaneous_collagen1.36771003
62MP0005423_abnormal_somatic_nervous1.36059302
63MP0003632_abnormal_nervous_system1.35154360
64* MP0004197_abnormal_fetal_growth/weight/1.34314178
65* MP0000762_abnormal_tongue_morphology1.31374804
66MP0005551_abnormal_eye_electrophysiolog1.30910507
67MP0001529_abnormal_vocalization1.29427488
68MP0004134_abnormal_chest_morphology1.28845340
69MP0002249_abnormal_larynx_morphology1.28363722
70MP0000428_abnormal_craniofacial_morphol1.28058370
71MP0002063_abnormal_learning/memory/cond1.25823856
72MP0003123_paternal_imprinting1.24833739
73MP0002064_seizures1.24540050
74MP0003567_abnormal_fetal_cardiomyocyte1.23475287
75MP0003183_abnormal_peptide_metabolism1.21558889
76MP0001849_ear_inflammation1.21025953
77MP0004085_abnormal_heartbeat1.20721207
78MP0001502_abnormal_circadian_rhythm1.18881822
79MP0000534_abnormal_ureter_morphology1.18741405
80MP0009745_abnormal_behavioral_response1.18321589
81MP0002111_abnormal_tail_morphology1.17459432
82* MP0003755_abnormal_palate_morphology1.16184330
83MP0003941_abnormal_skin_development1.15980159
84MP0000778_abnormal_nervous_system1.15852665
85MP0001672_abnormal_embryogenesis/_devel1.15350878
86MP0005380_embryogenesis_phenotype1.15350878
87MP0004043_abnormal_pH_regulation1.14625542
88MP0002796_impaired_skin_barrier1.14350976
89MP0003119_abnormal_digestive_system1.11814235
90MP0003861_abnormal_nervous_system1.11409154
91MP0000647_abnormal_sebaceous_gland1.11334441
92MP0003787_abnormal_imprinting1.11144494
93MP0004742_abnormal_vestibular_system1.10743219
94MP0001299_abnormal_eye_distance/1.09137286
95MP0003111_abnormal_nucleus_morphology1.09069502
96* MP0001697_abnormal_embryo_size1.08465652
97MP0002282_abnormal_trachea_morphology1.08071521
98MP0010234_abnormal_vibrissa_follicle1.07872880
99MP0009278_abnormal_bone_marrow1.07202433
100* MP0005620_abnormal_muscle_contractility1.07019674
101MP0000432_abnormal_head_morphology1.06995855
102MP0005330_cardiomyopathy1.06331619
103MP0000350_abnormal_cell_proliferation1.06181279
104MP0003984_embryonic_growth_retardation1.05907926
105MP0002734_abnormal_mechanical_nocicepti1.05218558
106MP0004142_abnormal_muscle_tone1.04757815
107MP0002088_abnormal_embryonic_growth/wei1.03731021
108MP0003077_abnormal_cell_cycle1.03572464
109MP0004484_altered_response_of1.03301022
110MP0002067_abnormal_sensory_capabilities1.02636118
111MP0006276_abnormal_autonomic_nervous1.01956844
112MP0003283_abnormal_digestive_organ1.01305878
113MP0005275_abnormal_skin_tensile1.01120694
114MP0000631_abnormal_neuroendocrine_gland1.00955545
115MP0003137_abnormal_impulse_conducting1.00363598
116MP0003121_genomic_imprinting1.00250663
117MP0005253_abnormal_eye_physiology1.00056020
118MP0002572_abnormal_emotion/affect_behav0.98964102
119MP0010352_gastrointestinal_tract_polyps0.98785989
120MP0009053_abnormal_anal_canal0.97740208
121MP0003385_abnormal_body_wall0.97520439
122MP0004130_abnormal_muscle_cell0.97401932
123MP0002108_abnormal_muscle_morphology0.97194736
124MP0010094_abnormal_chromosome_stability0.96553290
125MP0001963_abnormal_hearing_physiology0.96150244
126MP0005187_abnormal_penis_morphology0.96002773
127* MP0002086_abnormal_extraembryonic_tissu0.95433323
128MP0005395_other_phenotype0.93678370
129MP0010630_abnormal_cardiac_muscle0.93086638
130MP0000026_abnormal_inner_ear0.92800558
131MP0002697_abnormal_eye_size0.92420902
132* MP0004084_abnormal_cardiac_muscle0.91948800
133MP0005409_darkened_coat_color0.91286329
134MP0002092_abnormal_eye_morphology0.91152448
135MP0009384_cardiac_valve_regurgitation0.90645863
136MP0002233_abnormal_nose_morphology0.90335408
137MP0001286_abnormal_eye_development0.90270275
138MP0002925_abnormal_cardiovascular_devel0.90114998
139MP0009250_abnormal_appendicular_skeleto0.89809800
140MP0002152_abnormal_brain_morphology0.89733068
141MP0002882_abnormal_neuron_morphology0.88780313
142MP0000049_abnormal_middle_ear0.88481410
143MP0000579_abnormal_nail_morphology0.88050534
144MP0003938_abnormal_ear_development0.87280821
145MP0004145_abnormal_muscle_electrophysio0.87013294
146MP0005501_abnormal_skin_physiology0.86494921
147* MP0002972_abnormal_cardiac_muscle0.86085495
148MP0001346_abnormal_lacrimal_gland0.85934222
149MP0004270_analgesia0.85607329
150MP0009703_decreased_birth_body0.85591737
151MP0004087_abnormal_muscle_fiber0.85047717
152MP0005503_abnormal_tendon_morphology0.84738014
153MP0003631_nervous_system_phenotype0.84356025
154MP0000750_abnormal_muscle_regeneration0.84258669
155MP0002735_abnormal_chemical_nociception0.84066824
156MP0002098_abnormal_vibrissa_morphology0.83648369
157* MP0003935_abnormal_craniofacial_develop0.83613065
158MP0003936_abnormal_reproductive_system0.83182008
159MP0000749_muscle_degeneration0.82910361
160* MP0008775_abnormal_heart_ventricle0.82807648
161MP0002938_white_spotting0.82185163
162MP0003633_abnormal_nervous_system0.81966923
163MP0003878_abnormal_ear_physiology0.81399309
164MP0005377_hearing/vestibular/ear_phenot0.81399309
165* MP0002127_abnormal_cardiovascular_syste0.79222360
166MP0003879_abnormal_hair_cell0.78591186
167* MP0004924_abnormal_behavior0.77780669
168* MP0005386_behavior/neurological_phenoty0.77780669
169* MP0001544_abnormal_cardiovascular_syste0.77760876
170* MP0005385_cardiovascular_system_phenoty0.77760876
171MP0002229_neurodegeneration0.77115156
172MP0001501_abnormal_sleep_pattern0.76361512

Predicted human phenotypes

RankGene SetZ-score
1B lymphocytopenia (HP:0010976)4.92726549
2Thyroiditis (HP:0100646)4.71350298
3Abnormality of B cell number (HP:0010975)4.54227038
4Hypoplasia of the thymus (HP:0000778)4.53550905
5Papillary thyroid carcinoma (HP:0002895)4.05311246
6Esophageal atresia (HP:0002032)3.81414032
7Panhypogammaglobulinemia (HP:0003139)3.78748300
8Hypoproteinemia (HP:0003075)3.77949774
9Severe combined immunodeficiency (HP:0004430)3.70110946
10Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)3.69402048
11Degeneration of the lateral corticospinal tracts (HP:0002314)3.69402048
12Abnormality of the labia minora (HP:0012880)3.59921784
13Bundle branch block (HP:0011710)3.58555427
14Cerebral hypomyelination (HP:0006808)3.41371682
15Abnormality of the salivary glands (HP:0010286)3.34099505
16Alacrima (HP:0000522)3.22611535
17Fair hair (HP:0002286)3.22199821
18Neurofibrillary tangles (HP:0002185)3.12196876
19Peripheral hypomyelination (HP:0007182)3.08562421
20Combined immunodeficiency (HP:0005387)3.08211292
21Neoplasm of the oral cavity (HP:0100649)3.03150186
22Stenosis of the external auditory canal (HP:0000402)3.01471581
23Hypoplastic ischia (HP:0003175)2.98393155
24Subaortic stenosis (HP:0001682)2.92308095
25Abnormality of the left ventricular outflow tract (HP:0011103)2.92308095
26Muscle fiber splitting (HP:0003555)2.80015384
27Heterotopia (HP:0002282)2.71086940
28Hyporeflexia of lower limbs (HP:0002600)2.70626012
29Gastrointestinal atresia (HP:0002589)2.69949153
30Ependymoma (HP:0002888)2.65528278
31Abnormality of the ischium (HP:0003174)2.62350556
32Syncope (HP:0001279)2.62299497
33Abnormality of the phalanges of the 2nd finger (HP:0009541)2.60914948
34Sensory axonal neuropathy (HP:0003390)2.58721481
35Erythroderma (HP:0001019)2.57497967
36Coronal craniosynostosis (HP:0004440)2.54678994
37Abnormality of the corticospinal tract (HP:0002492)2.53949443
38Partial duplication of thumb phalanx (HP:0009944)2.52017996
39Insidious onset (HP:0003587)2.51521176
40Termporal pattern (HP:0011008)2.51521176
41Sudden death (HP:0001699)2.51218544
42Aplasia/Hypoplasia of the pubic bone (HP:0009104)2.50892122
43Absent radius (HP:0003974)2.46362247
44Vertebral clefting (HP:0008428)2.46231517
45Cerebral inclusion bodies (HP:0100314)2.45738393
46Limited hip movement (HP:0008800)2.41626289
47Decreased lacrimation (HP:0000633)2.41445402
48Febrile seizures (HP:0002373)2.38915135
49Generalized hypopigmentation of hair (HP:0011358)2.38211307
50Absent septum pellucidum (HP:0001331)2.33368517
51Partial duplication of the phalanx of hand (HP:0009999)2.31193389
52Absent forearm bone (HP:0003953)2.31041002
53Aplasia involving forearm bones (HP:0009822)2.31041002
54Stomach cancer (HP:0012126)2.30399152
55Broad-based gait (HP:0002136)2.28302831
56Hip contracture (HP:0003273)2.26920162
57Action tremor (HP:0002345)2.26778031
58Hypoplastic pelvis (HP:0008839)2.26424892
59Focal motor seizures (HP:0011153)2.25801759
60Anteriorly placed anus (HP:0001545)2.25757282
61Abnormality of chromosome segregation (HP:0002916)2.24327545
62Epiphyseal dysplasia (HP:0002656)2.23241174
63Aplasia/Hypoplasia of the tibia (HP:0005772)2.22724491
64Shallow orbits (HP:0000586)2.22363001
65Megalencephaly (HP:0001355)2.22352550
66Split foot (HP:0001839)2.22168976
67Hyperkalemia (HP:0002153)2.22029287
68Thyroid carcinoma (HP:0002890)2.21596307
69Abnormal auditory evoked potentials (HP:0006958)2.21467413
70Hyperventilation (HP:0002883)2.20772804
71Parakeratosis (HP:0001036)2.20477425
72Atrial fibrillation (HP:0005110)2.18970131
73Relative macrocephaly (HP:0004482)2.18084048
74Morphological abnormality of the inner ear (HP:0011390)2.16876816
75Difficulty running (HP:0009046)2.16182388
76Anterior segment dysgenesis (HP:0007700)2.16162543
77Aplasia/hypoplasia of the humerus (HP:0006507)2.14939818
78Short tibia (HP:0005736)2.14761786
79Skin pits (HP:0100276)2.14327125
80Onion bulb formation (HP:0003383)2.14213453
81Astrocytoma (HP:0009592)2.13729367
82Abnormality of the astrocytes (HP:0100707)2.13729367
83Short humerus (HP:0005792)2.13478833
84T lymphocytopenia (HP:0005403)2.12983578
85Eosinophilia (HP:0001880)2.12448384
86Osteomalacia (HP:0002749)2.11410424
87Heart block (HP:0012722)2.10673331
88Truncal obesity (HP:0001956)2.10503338
89Abnormal umbilical cord blood vessels (HP:0011403)2.09566602
90Single umbilical artery (HP:0001195)2.09566602
91Abnormality of the fetal cardiovascular system (HP:0010948)2.09566602
92Dysdiadochokinesis (HP:0002075)2.08866704
93Supernumerary spleens (HP:0009799)2.07689064
94Preaxial foot polydactyly (HP:0001841)2.06986169
95Foot dorsiflexor weakness (HP:0009027)2.05684652
96Impulsivity (HP:0100710)2.05654318
97Hypoplasia of the iris (HP:0007676)2.05230864
98Facial hemangioma (HP:0000329)2.04716634
99Fused cervical vertebrae (HP:0002949)2.03413845
100Abnormality of the septum pellucidum (HP:0007375)2.03099469
101Septo-optic dysplasia (HP:0100842)2.01911830
102Cutaneous finger syndactyly (HP:0010554)2.01730437
103Aplasia/Hypoplasia of the phalanges of the thumb (HP:0009658)2.00593509
104Abnormality of the foot musculature (HP:0001436)2.00526051
105Midline defect of the nose (HP:0004122)2.00306138
106Duplicated collecting system (HP:0000081)2.00129305
107Supernumerary ribs (HP:0005815)1.99223517
108Agammaglobulinemia (HP:0004432)1.98963041
109Ventricular tachycardia (HP:0004756)1.98275607
110Duplication of thumb phalanx (HP:0009942)1.98152768
111Supernumerary bones of the axial skeleton (HP:0009144)1.96731724
112Aplasia/Hypoplasia of the hallux (HP:0008362)1.95891374
113Medulloblastoma (HP:0002885)1.95074208
114Increased circulating renin level (HP:0000848)1.94362225
115Abnormality of secondary sexual hair (HP:0009888)1.93827645
116Abnormality of the axillary hair (HP:0100134)1.93827645
117Primary atrial arrhythmia (HP:0001692)1.93813481
118Adrenal hypoplasia (HP:0000835)1.93795391
119Premature skin wrinkling (HP:0100678)1.93656587
120Decreased number of peripheral myelinated nerve fibers (HP:0003380)1.93419821
121CNS hypomyelination (HP:0003429)1.93113533
122Abnormality of the middle phalanges of the toes (HP:0010183)1.93013119
123Drooling (HP:0002307)1.92364981
124Delayed epiphyseal ossification (HP:0002663)1.91939130
125Steppage gait (HP:0003376)1.91721622
126Intention tremor (HP:0002080)1.90702022
127Short hallux (HP:0010109)1.90461002
128Thickened helices (HP:0000391)1.89619111
129Right ventricular cardiomyopathy (HP:0011663)1.89143235
130Preauricular pit (HP:0004467)1.88563678
131Periauricular skin pits (HP:0100277)1.88563678
132Gaze-evoked nystagmus (HP:0000640)1.86228151
133Breast hypoplasia (HP:0003187)1.85861761
134Abnormality of cochlea (HP:0000375)1.85526394
135Segmental peripheral demyelination/remyelination (HP:0003481)1.85425229
136Cerebellar dysplasia (HP:0007033)1.85421023
137Focal seizures (HP:0007359)1.85353637
138Bronchomalacia (HP:0002780)1.84996094
139Rib fusion (HP:0000902)1.84717068
140Decreased circulating renin level (HP:0003351)1.84218474
141Selective tooth agenesis (HP:0001592)1.84083808
142Hemiplegia (HP:0002301)1.83703429
143Abnormality of the calf musculature (HP:0001430)1.82225305
144Asplenia (HP:0001746)1.81067797
145Aplasia/Hypoplasia of the sternum (HP:0006714)1.80935093
146Neoplasm of the heart (HP:0100544)1.80517481
147Abnormality of incisor morphology (HP:0011063)1.79896686
148Small epiphyses (HP:0010585)1.79446185
149Abnormality of the antihelix (HP:0009738)1.79288486
150Aplasia involving bones of the extremities (HP:0009825)1.76831987
151Aplasia involving bones of the upper limbs (HP:0009823)1.76831987
152Aplasia of the phalanges of the hand (HP:0009802)1.76831987
153Laryngomalacia (HP:0001601)1.76277041
154Short 4th metacarpal (HP:0010044)1.75310880
155Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)1.75310880
156Ulnar bowing (HP:0003031)1.74356995
157Hypoplastic labia majora (HP:0000059)1.74291708
158Abnormal vertebral ossification (HP:0100569)1.72883272
159Diaphragmatic weakness (HP:0009113)1.72349372
160Hepatoblastoma (HP:0002884)1.71882857
161Excessive salivation (HP:0003781)1.71781876
162Carpal bone hypoplasia (HP:0001498)1.71754490
163Broad metatarsal (HP:0001783)1.71645463
164Congenital nonbullous ichthyosiform erythroderma (HP:0007479)1.71226495
165Absent toe (HP:0010760)1.71136168
166Blue irides (HP:0000635)1.70581135
167Hemiparesis (HP:0001269)1.70057268
168Abnormal sex determination (HP:0012244)1.70012532
169Sex reversal (HP:0012245)1.70012532
170Irregular epiphyses (HP:0010582)1.69927312
171Stridor (HP:0010307)1.69735420
172Abnormal atrioventricular conduction (HP:0005150)1.69731719
173Rectal fistula (HP:0100590)1.69639203
174Rectovaginal fistula (HP:0000143)1.69639203
175Overriding aorta (HP:0002623)1.69569094
176Cutaneous syndactyly (HP:0012725)1.69398902
177Abnormality of the 2nd finger (HP:0004100)1.69315879
178Cystic hygroma (HP:0000476)1.69257140
179EMG: neuropathic changes (HP:0003445)1.68847605
180Oligodactyly (hands) (HP:0001180)1.67225544
181Supraventricular tachycardia (HP:0004755)1.67026831
182Supraventricular arrhythmia (HP:0005115)1.66312061
183Abnormality of T cell number (HP:0011839)1.65924635
184Widely spaced teeth (HP:0000687)1.62773730
185Volvulus (HP:0002580)1.62017485
186Complete atrioventricular canal defect (HP:0001674)1.61145699
187Cone-rod dystrophy (HP:0000548)1.60624260
188Ventricular arrhythmia (HP:0004308)1.58780757
189Abnormality of eosinophils (HP:0001879)1.58683071
190Congenital sensorineural hearing impairment (HP:0008527)1.58352957

Predicted kinase interactions (KEA)

RankGene SetZ-score
1STK394.78861668
2BMPR1B3.96118634
3MAP3K133.34217232
4OXSR12.99075479
5EPHA22.78224085
6BCR2.73546046
7EPHB12.64424754
8PNCK2.62398818
9FGFR22.39313712
10NTRK32.38275579
11CASK2.31812512
12ICK2.28578935
13TNIK2.28438210
14PBK2.27794899
15CDK122.18440192
16NTRK22.12179447
17LIMK12.02216125
18MARK12.00774535
19CDK191.89728092
20STK241.87722671
21MAP3K91.80166662
22BUB11.69708998
23FRK1.67651181
24TTK1.67519641
25MAP3K101.60762049
26LATS11.59351439
27TGFBR11.58910364
28SGK21.58763579
29WNK11.58277353
30WNK41.55487859
31TESK21.55453795
32MAP3K71.52385639
33RPS6KB21.49048098
34CSNK1A1L1.48950250
35BRD41.48839643
36NEK61.48352666
37WEE11.44848929
38PRPF4B1.41114830
39CSNK1G31.40896666
40ROCK21.38851747
41CAMK1G1.34949481
42PIK3CA1.32507872
43MST41.29126653
44PKN11.28988734
45TYRO31.26017658
46CSNK1G11.24097020
47NTRK11.23886304
48NEK91.23398899
49CDC71.18635261
50NLK1.18134113
51DDR21.14067378
52MAPKAPK51.11630443
53MKNK11.06628696
54ERBB41.05797378
55AKT31.04708563
56UHMK11.03128019
57CAMK1D1.02734231
58CSNK1D1.00894468
59PIK3CG1.00587478
60MAPK131.00452097
61TIE10.99020009
62SGK10.93667978
63PLK20.93563162
64STK100.93541258
65EPHB20.93110071
66STK40.92059583
67CDK90.90382129
68CAMK10.89895871
69MAP3K80.89435964
70CDK80.89051857
71PAK60.88209117
72EPHA40.88133925
73FGR0.87745540
74DYRK20.87348256
75TSSK60.86883463
76MTOR0.86610073
77SGK30.84435450
78* MET0.83449674
79PKN20.82991593
80CAMK40.82850391
81CDK70.81090173
82ALK0.79781713
83STK110.79051784
84CSNK1G20.79009083
85PRKAA20.78738100
86MAP3K40.76769607
87ARAF0.76754834
88CLK10.76608514
89NEK10.76172450
90RAF10.75675415
91MAPK70.75020785
92PAK30.74633179
93FLT30.73299234
94LMTK20.71349739
95PHKG20.71174641
96PHKG10.71174641
97DYRK1A0.71164759
98TTN0.71065567
99RET0.70999650
100RPS6KA50.69750697
101DMPK0.68866398
102CSNK1E0.67801912
103MAPK100.67583361
104PRKG10.66483443
105BMX0.65961472
106CDK50.65951869
107CAMK2D0.65803076
108PAK10.65564023
109PRKAA10.65369849
110CDK140.65229396
111FGFR10.65157262
112PAK20.65155837
113OBSCN0.64691177
114EEF2K0.64682161
115CHEK10.63953035
116MELK0.63950471
117PLK30.63758119
118PINK10.61153462
119MARK20.60967460
120PDGFRA0.60102939
121MKNK20.59855928
122ACVR1B0.59815166
123PDGFRB0.59487071
124CAMK2B0.59448536
125LATS20.58919348
126CAMK2A0.58898093
127KSR20.58555112
128SRPK10.58325173
129CDK30.56546927
130PDK20.55077723
131PRKD10.54860290
132PTK20.53877437
133CHEK20.53731761
134STK30.53217793
135PLK10.51904285
136PAK40.51900033
137MAPK120.51859923
138TAOK30.51341783
139RPS6KB10.51023998
140AURKA0.50690943
141CDK11A0.50501026
142GSK3A0.50138692
143CDK150.50105731
144MAP2K20.48620910
145PRKCZ0.48403871
146FER0.48013574
147ROCK10.47893313
148PRKCE0.47717862
149RPS6KA30.47350519
150CDK20.47263617
151CDK180.46358059
152CDK10.46262829
153PRKD30.44066521
154EPHA30.43373767
155KSR10.42613540
156STK38L0.42363796
157INSRR0.42006576
158TRPM70.41986562
159EIF2AK30.41667391
160ZAK0.41524746
161SGK2230.40931626
162SGK4940.40931626
163ERBB20.40278816

Predicted pathways (KEGG)

RankGene SetZ-score
1Terpenoid backbone biosynthesis_Homo sapiens_hsa009004.30546482
2Steroid biosynthesis_Homo sapiens_hsa001003.36930104
3Fatty acid elongation_Homo sapiens_hsa000622.92682375
4Basal cell carcinoma_Homo sapiens_hsa052172.53489844
5Tight junction_Homo sapiens_hsa045302.44459700
6Nitrogen metabolism_Homo sapiens_hsa009102.41466678
7Ether lipid metabolism_Homo sapiens_hsa005652.36629801
8Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.28482771
9Hedgehog signaling pathway_Homo sapiens_hsa043402.26549456
10Hippo signaling pathway_Homo sapiens_hsa043902.24956599
11Mismatch repair_Homo sapiens_hsa034302.12913904
12Nicotine addiction_Homo sapiens_hsa050331.96816734
13Circadian rhythm_Homo sapiens_hsa047101.96037178
14ECM-receptor interaction_Homo sapiens_hsa045121.95453916
15Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.93085623
16Circadian entrainment_Homo sapiens_hsa047131.85320058
17RNA transport_Homo sapiens_hsa030131.76122891
18Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.71924021
19Glutamatergic synapse_Homo sapiens_hsa047241.70466555
20Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.68184289
21Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045501.66968398
22Spliceosome_Homo sapiens_hsa030401.66322409
23Axon guidance_Homo sapiens_hsa043601.61718708
24Ovarian steroidogenesis_Homo sapiens_hsa049131.56111590
25GABAergic synapse_Homo sapiens_hsa047271.53680214
26RNA polymerase_Homo sapiens_hsa030201.52662013
27Long-term potentiation_Homo sapiens_hsa047201.50521737
28Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.49331730
29Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.48896962
30Morphine addiction_Homo sapiens_hsa050321.47828445
31Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.47342865
32Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.46262811
33Linoleic acid metabolism_Homo sapiens_hsa005911.46102077
34Arginine and proline metabolism_Homo sapiens_hsa003301.45373220
35TGF-beta signaling pathway_Homo sapiens_hsa043501.40549212
36DNA replication_Homo sapiens_hsa030301.39433644
37Long-term depression_Homo sapiens_hsa047301.37149374
38Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.36351284
39Basal transcription factors_Homo sapiens_hsa030221.34889643
40Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.32933154
41Oxytocin signaling pathway_Homo sapiens_hsa049211.32842731
42Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.32315560
43Cell cycle_Homo sapiens_hsa041101.31289415
44cAMP signaling pathway_Homo sapiens_hsa040241.31123461
45cGMP-PKG signaling pathway_Homo sapiens_hsa040221.27981224
46Gastric acid secretion_Homo sapiens_hsa049711.26914001
47Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.26494878
48alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.26483189
49FoxO signaling pathway_Homo sapiens_hsa040681.26285907
50Non-homologous end-joining_Homo sapiens_hsa034501.25627834
51Notch signaling pathway_Homo sapiens_hsa043301.24981402
52Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.24940463
53Vascular smooth muscle contraction_Homo sapiens_hsa042701.22207050
54Thyroid hormone signaling pathway_Homo sapiens_hsa049191.21807872
55Dopaminergic synapse_Homo sapiens_hsa047281.21549763
56Amphetamine addiction_Homo sapiens_hsa050311.20915234
57Dorso-ventral axis formation_Homo sapiens_hsa043201.20123280
58* Renal cell carcinoma_Homo sapiens_hsa052111.19549763
59Vitamin B6 metabolism_Homo sapiens_hsa007501.18317464
60Adherens junction_Homo sapiens_hsa045201.16981110
61One carbon pool by folate_Homo sapiens_hsa006701.16539474
62Renin secretion_Homo sapiens_hsa049241.16203325
63mRNA surveillance pathway_Homo sapiens_hsa030151.15283516
64Insulin secretion_Homo sapiens_hsa049111.14235727
65Glutathione metabolism_Homo sapiens_hsa004801.12979970
66Taste transduction_Homo sapiens_hsa047421.10784284
67Nucleotide excision repair_Homo sapiens_hsa034201.10254816
68ABC transporters_Homo sapiens_hsa020101.10161328
69Wnt signaling pathway_Homo sapiens_hsa043101.09619959
70MicroRNAs in cancer_Homo sapiens_hsa052061.09159564
712-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.06206523
72Olfactory transduction_Homo sapiens_hsa047401.06045916
73Phosphatidylinositol signaling system_Homo sapiens_hsa040701.05692153
74Cholinergic synapse_Homo sapiens_hsa047251.05116864
75Sphingolipid metabolism_Homo sapiens_hsa006001.04070045
76Focal adhesion_Homo sapiens_hsa045101.03857011
77Salivary secretion_Homo sapiens_hsa049701.03736364
78Endometrial cancer_Homo sapiens_hsa052131.01984824
79Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.01893482
80Aldosterone synthesis and secretion_Homo sapiens_hsa049251.01760218
81Pancreatic secretion_Homo sapiens_hsa049721.00713966
82Calcium signaling pathway_Homo sapiens_hsa040200.98996772
83Inositol phosphate metabolism_Homo sapiens_hsa005620.97518769
84mTOR signaling pathway_Homo sapiens_hsa041500.96408155
85Serotonergic synapse_Homo sapiens_hsa047260.93780653
86Regulation of actin cytoskeleton_Homo sapiens_hsa048100.91211738
87Bile secretion_Homo sapiens_hsa049760.91132100
88Homologous recombination_Homo sapiens_hsa034400.90415953
89Caffeine metabolism_Homo sapiens_hsa002320.89063307
90Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.88715561
91Folate biosynthesis_Homo sapiens_hsa007900.88392288
92Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.87583579
93PI3K-Akt signaling pathway_Homo sapiens_hsa041510.87519092
94Glioma_Homo sapiens_hsa052140.87336098
95Pathways in cancer_Homo sapiens_hsa052000.85967465
96Dilated cardiomyopathy_Homo sapiens_hsa054140.85966652
97Choline metabolism in cancer_Homo sapiens_hsa052310.85788753
98Cardiac muscle contraction_Homo sapiens_hsa042600.85090809
99Protein digestion and absorption_Homo sapiens_hsa049740.84048544
100Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.82335822
101* Proteoglycans in cancer_Homo sapiens_hsa052050.79793538
102Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.79579755
103Biosynthesis of amino acids_Homo sapiens_hsa012300.79543887
104Cocaine addiction_Homo sapiens_hsa050300.77191095
105Systemic lupus erythematosus_Homo sapiens_hsa053220.74854424
106Type II diabetes mellitus_Homo sapiens_hsa049300.73981527
107Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.72598082
108Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.72542802
109* ErbB signaling pathway_Homo sapiens_hsa040120.71881567
110Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.71135637
111Prostate cancer_Homo sapiens_hsa052150.70499524
112GnRH signaling pathway_Homo sapiens_hsa049120.69240663
113Endocytosis_Homo sapiens_hsa041440.69052215
114Oocyte meiosis_Homo sapiens_hsa041140.68388648
115Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.68181137
116Phototransduction_Homo sapiens_hsa047440.67907552
117Estrogen signaling pathway_Homo sapiens_hsa049150.64942622
118Arachidonic acid metabolism_Homo sapiens_hsa005900.64464047
119Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.63659166
120RNA degradation_Homo sapiens_hsa030180.62727086
121Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.61703291
122Longevity regulating pathway - mammal_Homo sapiens_hsa042110.61628905
123Insulin signaling pathway_Homo sapiens_hsa049100.61372227
124Sulfur metabolism_Homo sapiens_hsa009200.60484163
125* Neurotrophin signaling pathway_Homo sapiens_hsa047220.58881083
126B cell receptor signaling pathway_Homo sapiens_hsa046620.58631061
127Fanconi anemia pathway_Homo sapiens_hsa034600.58338247
128Prolactin signaling pathway_Homo sapiens_hsa049170.56710729
129Chronic myeloid leukemia_Homo sapiens_hsa052200.56645905
130MAPK signaling pathway_Homo sapiens_hsa040100.56487773
131Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.56185957
132Viral carcinogenesis_Homo sapiens_hsa052030.54556600
133Mineral absorption_Homo sapiens_hsa049780.54187687
134Small cell lung cancer_Homo sapiens_hsa052220.53404855
135* Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.52843948
136Histidine metabolism_Homo sapiens_hsa003400.52298743
137Melanogenesis_Homo sapiens_hsa049160.52288848
138Alcoholism_Homo sapiens_hsa050340.52116152
139Glycerophospholipid metabolism_Homo sapiens_hsa005640.50710732
140Propanoate metabolism_Homo sapiens_hsa006400.49374068
141Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.48528719
142Butanoate metabolism_Homo sapiens_hsa006500.48320659
143Leukocyte transendothelial migration_Homo sapiens_hsa046700.47612633
144Melanoma_Homo sapiens_hsa052180.47316952
145Fatty acid metabolism_Homo sapiens_hsa012120.47290153
146Cysteine and methionine metabolism_Homo sapiens_hsa002700.47026587
147Rap1 signaling pathway_Homo sapiens_hsa040150.45452748
148Lysine degradation_Homo sapiens_hsa003100.45204536
149Sphingolipid signaling pathway_Homo sapiens_hsa040710.44036273
150Huntingtons disease_Homo sapiens_hsa050160.43225623
151* Ras signaling pathway_Homo sapiens_hsa040140.42743398
152Bladder cancer_Homo sapiens_hsa052190.40500020
153Carbon metabolism_Homo sapiens_hsa012000.40374663
154Parkinsons disease_Homo sapiens_hsa050120.40374351
155Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.40149465
156Ribosome_Homo sapiens_hsa030100.39949810
157Oxidative phosphorylation_Homo sapiens_hsa001900.39420900
158Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.38568028
159Amoebiasis_Homo sapiens_hsa051460.33969567
160* Phospholipase D signaling pathway_Homo sapiens_hsa040720.30034740
161Base excision repair_Homo sapiens_hsa034100.28923416
162Gap junction_Homo sapiens_hsa045400.28816046

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